Diko : en:hypotonia (patient b)

en:hypotonia (patient b)

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

›

umls:C4228441

Associations d'idées

[F]

›

819

en:generalized lack of subcutaneous fat

•

en:primarily affects lower limbs

•

en:calf hypertrophy (reported in 1 family)

•

en:hyporeflexia in affected muscles

•

en:exercise-induced muscle fatigue

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscles become hard and tender during exercise

•

en:muscle atrophy later in the disease

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle biopsy shows centralized nuclei

•

en:muscle weakness, congenital

•

en:muscle biopsy shows dystrophic pattern

•

en:shoulder weakness and atrophy

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:muscle weakness in forearm muscles

•

en:superior rectus atrophy

•

en:loss of subcutaneous fat, generalized

•

en:attacks precipitated by cold temperature

•

en:cores contain densely packed myofilaments

•

en:nonspecific myopathy seen on biopsy

•

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction

•

en:absence of immunostaining for alpha- and beta-dystroglycan (family b)

•

en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course

•

en:fiber type variation

•

en:repetitive response to single nerve stimulation

•

en:increased glycogen in muscle (but to a lesser extent than in the heart)

•

en:increased connective tissue and fat in muscles

•

en:abnormal fat pad, buttocks and upper thighs (in some patients)

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:internal nuclei (in some patients)

•

en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin

•

en:congophilic inclusions

•

en:decreased postsynaptic length

•

en:dystrophic changes seen on muscle biopsy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy

•

en:distal muscle weakness, mild

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:abnormal distribution of subcutaneous fat

•

en:uterine muscle may be stiff during pregnancy

•

en:scapuloperoneal amyotrophy

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:no muscle weakness

•

en:pectoralis muscles may be less involved, leading to inward shrugging posture

•

en:shoulder weakness

•

en:calf hypertrophy (less common)

•

en:proximal muscle weakness occurs later

•

en:loss of gluteal adipose tissue

•

en:weakness and wasting of the lower limbs

•

en:calf hypertrophy (early in the disease)

•

en:limb-girdle muscle atrophy

•

en:poor muscle build

•

en:weakness of long finger extensor muscles (occurs later)

•

en:decreased glutamate oxidation (about 63% of normal)

•

en:lymphedema (lower limb)

•

en:myotonic discharges

•

en:hyaline inclusion

•

en:endomysial fibrosis

•

en:no facial muscle involvement

•

en:hypotonia (untreated hypothyroidism)

•

en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:vacuolar degeneration

•

en:decreased thiamine pyrophosphate

•

en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy

•

en:reduced ankle dorsiflexion

•

en:quadriceps muscle spared

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:difficulty rising from a squatting position

•

en:soft tissue vascular malformations

•

en:vacuoles are autophagocytic

•

en:muscle weakness, predominantly proximal

•

en:poor muscle bulk

•

en:calf atrophy (later onset)

•

en:muscle fiber regeneration

•

en:gluteal hypoplasia

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy may show inflammatory changes

•

en:fiber size variation seen on muscle biopsy

•

en:prominent involvement of the biceps brachii muscles

•

en:proximal muscle weakness (85% of patients)

•

en:red-ragged fibers (2p21del)

•

en:enlarged mitochondria

•

en:nemaline bodies occur in type 1 fibers

•

en:lymphedema of the extremities

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:nemaline rod formation

•

en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:atrophy of the lower leg muscles

•

en:leg cramps may occur with exercise

•

en:increased lysosomal glycogen

•

en:shoulder girdle muscle atrophy

•

en:abnormal fiber size variation

•

en:accelerated decay of the synaptic current

•

en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:hypotonia, neonatal, severe (hcs)

•

en:decremental cmap response to repetitive nerve stimulation

•

en:loss of ambulation

•

en:cores or minicores

•

en:decreased cytochrome c oxidase activity

•

en:deltoid muscle hypoplasia

•

en:distal muscle weakness due to neuropathy

•

en:decreased activity of cytochrome c oxidase seen on muscle biopsy

•

en:distal muscle atrophy due to neurologic disease

•

en:decreased muscle bulk

•

en:fiber necrosis

•

en:fatty replacement

•

en:rectus fascia separation

•

en:myalgia, episodic

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:muscle biopsy shows neurogenic atrophy

•

en:inflammatory cells absent

•

en:tremors subside over the first 2 to 3 months of life

•

en:neck and proximal limb muscle myopathy

•

en:muscle weakness, severe, diffuse

•

en:mild weakness of the small hand muscles

•

en:muscle biopsy shows chronic and active denervation

•

en:type 1 fiber atrophy

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:distal muscle weakness, occurs initially

•

en:low muscle mass

•

en:myotonia is usually not seen

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:foot extensor muscle weakness (later onset)

•

en:soft fleshy palms (50%)

•

en:z-disk degeneration

•

en:swelling of the affected areas

•

dégénérescence vacuolaire

•

en:variation of myofiber diameter

•

en:proximal muscle weakness in upper limbs

•

en:muscle weakness, proximal, limb-girdle

•

en:granular deposits in the sarcomeres

•

en:glycogen depletion in skeletal muscle

•

en:disorganization of the myofibrillar pattern

•

en:atrophy of the intrinsic foot and hand muscles

•

en:centralized nuclei may be seen

•

en:absence of necrosis

•

en:generalized limb muscle atrophy

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:decreased cytochrome c oxidase staining

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:nonspecific muscle fiber atrophy

•

en:myopathy, mild to severe

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:difficulty running or inability to run

•

en:pelvic muscle involvement occurs later

•

en:severe muscle hypotonia at birth

•

en:glycogenosis of skeletal muscle, mild (in some patients)

•

en:humeroperoneal weakness and atrophy

•

en:foot dorsiflexor weakness

•

en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers

•

en:increased fatty infiltration

•

en:muscle atrophy appears later in disease course

•

en:muscle atrophy, mild, more proximal than distal

•

en:no muscle fiber necrosis

•

en:normal or increased facial and neck adipose tissue

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:minipolymyoclonus

•

en:lipomas or lipomatous masses (most cases)

•

en:symptoms may be induced by heat

•

en:muscle biopsy shows merosin (156225)-positive muscle fibers

•

en:muscle weakness associated with fasting or infection

•

en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)

•

en:wasting, especially temporal, neck, and facial muscles

•

en:absence of spontaneous activity at birth (severe form)

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:decreased endplate potential and amplitudes

•

en:muscle weakness, lower limbs (patient a)

•

en:merosin-positive biopsy

•

en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:decreased miniature endplate potential (mepp) and current (mepc)

•

en:endplate myopathy

•

en:widening of the synaptic cleft

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:muscle weakness, particularly of the lower limbs

•

en:scattered necrotic fibers

•

en:decreased quantal release

•

en:reduced muscle tone

•

en:decremental cmap response to repetitive nerve stimulation seen on emg

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:wasting of calf muscles (rare)

•

en:mildly increased mtdna

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:replacement of affected muscle tissue with fatty tissue

•

en:weakness worsened by activity

•

en:skeletal muscle shows dystrophic changes

•

en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:tubular aggregates in muscle fibers may occur

•

en:lymphedema of the hands (in some patients)

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:rectus abdominis muscle separation

•

en:muscular appearance

•

en:pectoralis hypoplasia

•

en:myotonia improves with continued activity ('warm-up phenomenon')

•

en:muscle aches, intermittent

•

en:interosseus muscles involved

•

en:wheelchair dependency in 20% of patients by age 40

•

en:loss of antigravity strength

•

en:tetanus-like muscle contractions

•

en:muscle weakness (in some patients)

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:weakness of anterior compartment tibial muscles

•

en:muscle weakness, proximal greater than distal

•

en:variation of fiber size and shape

•

en:distal limb muscle atrophy (less common)

•

en:inability to stand on tiptoes

•

en:abnormal mitochondria

•

en:inclusion body myopathy

•

en:type 2 fiber hypertrophy

•

en:calf hypertrophy (uncommon)

•

en:tendon tears

•

en:distal muscle weakness may occur

•

en:limb-girdle muscle weakness, proximal, upper greater than lower

•

en:hypoplasia of the hand muscles (29%)

•

en:imaging shows muscle atrophy and fatty replacement

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle stiffness (in older patients)

•

en:proximal lower limb amyotrophy

•

en:proximal upper limb amyotrophy

•

en:muscle pain and cramps following exercise

•

en:muscle weakness, lower limbs, during exercise

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:increased variability in muscle fiber diameter

•

en:fibrillations in affected muscles

•

en:distal muscle atrophy (lower limbs more affected than upper limbs)

•

en:increased glycogen

•

en:hamstring muscle affected

•

en:hypertonia at birth

•

en:lipid droplet accumulation

•

en:mitochondria show paracrystalline inclusions

•

en:lymphangitis, episodic

•

en:involves upper and lower proximal muscles

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:decreased muscle mitochondrial aconitase

•

en:loss of adipose tissue occurs around puberty

•

en:lipohypoplasia, regional

•

en:no dystrophic changes

•

en:calf pseudohypertrophy rare

•

en:muscle biopsy shows core-like regions devoid of oxidative activity

•

en:difficulty rising from chair

•

en:flaccid weakness or paralysis, episodic attacks

•

en:centralized nuclei, rare

•

en:finger and wrist extensor weakness

•

en:decreased muscle bulk (in one patient)

•

en:difficulty climbing stairs, jumping, running

•

en:repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:abnormal size and shape of synaptic endplates

•

en:retroperitoneal fibrosis (rare)

•

en:inability to stand or walk (in severe cases)

•

en:decreased achr

•

en:minimal muscle mass

•

en:myofibril destruction (in some patients)

•

en:vacuoles in the myofiber cytoplasm

•

en:small nerve terminals

•

en:degeneration of junctional folds

•

en:edema at birth

•

en:increased fibrosis (in some patients)

•

en:abnormal irregular myofibrillar network

•

en:absence of myotonia in infancy (congenital form)

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:a subset of patients develop bilateral weakness

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:atrophy of anterior compartment tibial muscles

•

en:abdominal muscle hypoplasia

•

en:abnormalities in myofibril organization

•

en:ragged-red muscle fibers

•

en:increased internal nuclei (in some patients)

•

en:sparing of anterior tibialis muscle

•

en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs

•

en:prominent involvement of the quadriceps femoris muscles

•

en:dystrophic changes

•

en:attacks precipitated by rest after exercise

•

en:vacuolar myopathy

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:mitochondrial paracrystalline inclusion bodies

•

en:symptoms are progressive for a few years, and then become stationary

•

en:transient neonatal hypotonia (less common)

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:firm muscles

•

en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles

•

en:muscle weakness is predominantly of extremities and tongue

•

en:tubulofilamentous inclusions

•

en:myopathic findings on biopsy have been occasionally reported

•

en:smooth muscle may also become involved

•

en:independent walking may not be achieved

•

en:mallory-like bodies

•

en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)

•

en:hypothenar muscle atrophy

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:increased endo- and perimysial connective tissue

•

en:gluteus maximus and thigh adductors most affected

•

en:ragged-red fibers seen on muscle biopsy

•

en:increased endomysial connective tissue around muscle fibers

•

en:some patients never achieve ambulation

•

en:a subset of patients have aggravation on cold exposure ('cold paresis')

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:fiber type grouping

•

en:gait abnormalities (occurs later)

•

en:z-disk streaming

•

en:apoptotic nuclei

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:anterior tibial muscles first involved

•

en:congophilic staining

•

en:edema is present at birth and then slowly decreases

•

en:distal lower limb muscle weakness and atrophy

•

en:fiber size variation

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle mounding

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:lipoatrophy of trunk

•

en:atrophy of the thenar and hypothenar muscles

•

en:myopathy, nonprogressive

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:nemaline bodies are rarely intranuclear

•

en:myopathy (rare)

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:patients may have distal or proximal muscle weakness, or both

•

en:hip flexor weakness

•

en:decreased glycosylation of alpha-dystroglycan

•

en:severe form shows absence of spontaneous activity at birth

•

en:muscle biopsy shows no dystrophic changes

•

en:decreased muscle mass

•

en:lymphedema, dorsa of feet

•

en:hypotonia (families a and b)

•

en:walking may be limited

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:difficulty walking and climbing stairs (patient a)

•

en:myopathic features seen on emg

•

en:preserved junctional structure seen on muscle biopsy

•

en:repetitive response to single nerve stimulus

•

en:generalized muscle weakness, severe

•

en:increased fibrosis (family a)

•

en:internal nuclei

•

en:biopsy shows defects in pyruvate oxidation

•

en:cellulitis or infection may occur

•

en:distal muscles may be affected

•

en:hangrip myotonia

•

en:excess fat, symmetrically located in buttocks and lower extremities to ankles

•

en:distal lower limb amyotrophy

•

en:decreased shank muscle mass

•

en:distal muscle weakness in lower limbs, severe

•

en:rhabdomyolysis may occur

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:prominent muscular appearance

•

en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:positive staining for slow myosin heavy chain

•

en:retain some mechanical adipose tissue (joints, orbits, palms, soles)

•

en:shortening of flexor profundus muscle-tendon unit

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:z-band streaming

•

en:cranial muscles spared

•

en:muscle weakness of the face and neck, mild to moderate

•

en:loss of ability to walk in early childhood

•

en:z-line streaming see on electron microscopy

•

en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures

•

en:eosinophilic inclusions

•

en:decreased muscle action potential after warming affected muscle

•

en:proximal limb muscle weakness (occurs later)

•

en:hypoplasia of cervical paravertebral muscles

•

en:poor head control in infancy

•

en:painful swelling in fasciae

•

en:myotonia is most pronounced in the extremities

•

en:myotonia, potassium-sensitive (may be responsive to acetazolamide)

•

en:atrophy of the muscles in the anterior compartment of the lower leg

•

en:muscle fiber necrosis

•

en:congenital, nonprogressive myopathy

•

en:abnormal mitochondria with loss of cristae

•

en:hypoplasia of serratus anterior muscle

•

en:motor clumsiness

•

en:exercise-induced weakness

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:normal or increased adipose tissue around the neck

•

en:muscle hyperirritability

•

en:mild variability in muscle fiber size

•

en:biceps brachii atrophy

•

en:hip girdle muscle atrophy

•

en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers

•

en:areflexia due to muscle weakness

•

en:deposits immunoreactive to beta-amyloid protein

•

en:myopathic changes on pathology

•

en:mild weakness

•

en:lipoatrophy, generalized

•

en:difficulty walking on heels occurs prior to difficulty walking on toes

•

en:absence of telethonin protein

•

en:muscle fibers appear as fetal myotubules

•

en:muscle wasting in lower limbs

•

en:distal muscle weakness occurs later

•

en:progressive interictal weakness is common

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:peroneal muscle atrophy

•

en:some patients become wheelchair-dependent

•

en:soft tissue or tendinous calcinosis may occur

•

en:sparing of the anterior tibial compartment

•

en:poor musculature

•

en:limb weakness and atrophy

•

en:facial muscle weakness and atrophy, progressive

•

en:marked muscular hypertrophy

•

en:absence of merosin in muscle

•

en:calf muscle pseudohypertrophy

•

en:hypotonia, generalized, severe

•

en:hypotonia

•

en:lymphedema (primarily in lower limbs, but also arms in some patients)

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients)

•

en:distal muscle weakness, lower legs

•

en:degenerating junctional folds

•

en:lipid storage, mainly in type i fibers

•

en:preserved junctional folds

•

en:focal loss of cross striations seen on muscle biopsy

•

en:muscle weakness usually does not occur

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:atrophic calf muscles

•

en:attacks precipitated by potassium

•

en:easy bruisability of lower extremities

•

en:lymphedema, of upper and/or lower extremity (rare)

•

en:neck flexor weakness

•

en:imaging shows progressive fatty infiltration of muscle

•

en:proximal weakness

•

en:dystrophic changes may be present

•

en:increased internal nuclei in skeletal muscle fibers

•

en:normal or increased abdominal adipose tissue

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:progressive distal and proximal symmetric limb weakness

•

en:increased perisarcolemmal calcium deposition

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

en:exercise-induced muscle stiffness

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:weakness of ankle plantar flexion

•

en:congophilic amyloid material

•

en:normal mitochondrial morphology (1 patient)

•

en:vacuolar myopathy may occur

•

en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)

•

en:centralized myonuclei

•

en:atrophy of neck muscles may occur later

•

en:muscle biopsy shows ragged red fibers

•

en:type 1 muscle fiber predominance

•

en:increased adipose fibrosis

•

en:patients achieve independent ambulation, but may lose it

•

en:proximal lower limb muscle weakness, upper and lower (later onset)

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)

•

en:by fourth decade, many patients need help with ambulation

•

en:decreased lactate clearance from muscle after exercise (reported in 1 patient)

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:increased intramuscular fat

•

en:cytoplasmic inclusion bodies (finding)

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle fiber splitting

•

en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits

•

en:no staining for oxidative enzymes

•

en:hypotonia (45%)

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:phagocytic vacuoles with degraded membranous material

•

en:normal neonatal period may occur before weakness is apparent

•

en:proximal muscle weakness, mild

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:heterotopic bone formation in subcutaneous fat

•

en:lymphedema of the lower limbs (swelling is confined to below the knees)

•

en:distal leg muscle atrophy

•

en:distal muscle weakness and atrophy

•

en:large hypertrophied fibers

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:type 2 muscle fiber atrophy

•

en:minicores extend full fiber diameter

•

en:increased centralized internal nuclei

•

en:electromyographic decrements in some muscles

•

en:muscle weakness, upper and lower limbs

•

en:myofibrillar disintegration

•

en:limb-girdle myopathy

•

en:ragged-red fibers on muscle biopsy

•

en:hand and foot weakness

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:congenital absence of gluteal muscles

•

en:bilateral facial weakness (congenital form)

•

en:plasma membrane discontinuities

•

en:hyaline plaques with absent oxidative activity

•

en:increased connective tissue and fat

•

en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients)

•

en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy

•

en:decreased numbers of achr seen on muscle biopsy

•

en:repetitive action potentials in response to single nerve stimulation

•

en:hypotonia (patients a and c)

•

en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma

•

en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy

•

en:acetazolamide may worsen symptoms

•

en:biopsy shows dystrophic changes

•

en:calf muscle discomfort

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:degenerating fibers

•

en:episodic weakness may or may not occur independent of myotonia

•

en:triceps weakness

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:gastrocnemius and soleus muscles most affected

•

en:no rods

•

en:rhabdomyolysis with exercise (in older patients)

•

en:muscle biopsy shows abnormal mitochondria

•

en:distal muscle atrophy, affecting the lower limbs

•

en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')

•

en:muscle weakness, mild, proximal and distal

•

en:muscle biopsy shows fiber type disproportion

•

en:no lipodystrophy in face and neck

•

en:rimmed vacuoles with basophilic granular material

•

en:difficulty in toe walking

•

en:decreased caveolae in muscle tissue

•

en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade)

•

en:myopathy in approximately 45% of patients

•

en:generalized neonatal hypotonia

•

en:slowly progressive limb-girdle myopathy

•

en:reduced muscle bulk

•

en:reduced postsynaptic cleft area

•

en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber

•

en:muscle wasting due to chronic denervation

•

en:increased subcutaneous truncal adipose tissue

•

en:myalgia (in some patients)

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:generalized muscle weakness, proximal and distal

•

en:edema, subcutaneous, generalized

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:muscle biopsy shows decrease or absence of cytochrome c oxidase

•

en:distal limb muscle weakness (less common)

•

en:cytochrome c oxidase-negative fibers

•

en:dependent edema after excess fat has been present for several years

•

en:increased numbers of type 1 fibers

•

en:rimmed vacuoles on biopsy

•

en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:distal limb muscle weakness occurs later

•

en:onset of weakness in hands and feet

•

en:increased central nucleation

•

en:increased muscle lipid content

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows dystrophic features

•

en:decreased lipoic acid

•

en:muscle biopsy shows myofiber degeneration

•

en:loss of independent ambulation around age 12 years

•

en:muscle pain with exercise (in older patients)

•

en:poor exercise tolerance

•

en:quadriceps atrophy (later onset)

•

en:progression to wheelchair in fourth decade

•

en:loss of truncal subcutaneous adipose tissue

•

en:patchy muscle fiber degeneration

•

en:normal or increased truncal adipose tissue

•

en:hypotrophy of type 1 fibers

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:deep finger muscle weakness

•

en:levator palpebrae superioris atrophy

•

en:thickening of the fascial structures of the palm and fingers

•

en:proximal muscle weakness (occasional)

•

en:muscle biopsy shows myopathic changes

•

en:loss of ambulation between third and sixth decade

•

en:lack of antigravity movements (patient b)

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:congophilic deposits

•

en:secondary myopathic features

•

en:muscle biopsy shows loss of type 2a fibers

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:increased variation in fiber size (in some patients)

•

en:prolonged endplate potentials

•

en:shortened open channel duration

•

en:neurogenic atrophy

•

en:variation in skeletal muscle fiber diameter

•

en:amyotrophy, distal, upper and lower limbs

•

en:autophagic rimmed vacuoles

•

en:mitochondrial proliferation

•

en:disorganization of the neuromuscular junction

•

en:attacks relieved by potassium administration

•

en:angulated atrophic muscle fibers

•

en:asymmetric muscle involvement

•

en:decreased distal reflexes

•

en:dystrophic changes occur later

•

en:generalized muscular appearance from birth

•

en:increased fatigue

•

en:increased intraabdominal fat

•

en:exertional fatigue

•

en:z-disks with abnormal homogeneous material

•

en:decreased adipose tissue around neck

•

en:variable fiber size

•

en:shoulder muscle hypoplasia

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria

•

en:reduced muscle mass

•

en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes

•

en:fasciculations (less common)

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:increased muscle glycogen content

•

en:swelling of the extremities, episodic

•

en:painful muscle cramps

•

en:angulated atrophic fibers

•

en:velopharyngeal muscle weakness

•

en:dorsal and flexor muscles of the forearm are involved

•

en:sparing of small hand and finger muscles

•

en:distal muscle atrophy due to denervation

•

en:muscle weakness and atrophy, proximal

•

en:weakness of neck muscles may occur later

•

en:atrophy of ankle and toe extensor (dorsiflexor) muscles

•

en:hip abductor weakness and atrophy

•

en:increased variation in fiber size seen on muscle biopsy

•

en:large lipid droplets

•

hypoplasie glutéale

•

en:muscle cramps during exercise

•

en:absence of gamma-sarcoglycan protein

•

en:muscle atrophy in the limbs

•

en:rhabdomyolysis, episodic and recurrent

•

en:dystrophic changes on biopsy

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:hypotonia, truncal and appendicular

•

en:normal dystrophin immunostaining

•

en:decreased muscle density on imaging

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:tenderness of lower extremities

•

en:electromyography shows myotonic discharges

•

en:distal atrophy of the legs

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:atrophic fibers

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:exercise intolerance (less common)

•

en:neurogenic atrophy seen on muscle biopsy

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:pectoralis major hypoplasia

•

en:respiratory distress (congenital form)

•

en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

•

en:muscle weakness is not a feature

•

en:edema reoccurs with infections

•

en:generalized muscle wasting

•

en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei

•

en:muscle biopsy shows glycogen storage

•

en:muscle weakness, proximal limb muscle, mild to moderate

•

en:hypoplasia of supraspinatus muscle

•

en:pain or cramping during sustained manual activity

•

en:muscle cramps, painful, recurrent

•

en:potassium sensitivity has been reported

•

en:hypotonia (2 patients)

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:premature exertional muscle weakness

•

en:thickened subcutaneous tissue

•

en:respiratory muscles may be involved (more common in juvenile-onset)

•

en:rhabdomyolysis, episodic

•

en:muscle atrophy, progressive

•

en:myotonia is present in majority of cases

•

en:severe disability within 20 years of onset

•

en:normal or decreased facial and neck adipose tissue

•

en:calf muscle hypertrophy

•

en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization

•

en:muscle weakness, proximal and distal

•

en:marked lack of adipose tissue

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:increased lipid droplets and abnormal mitochondria

•

en:hypotonia, profound

•

en:both type 1 and type 2 fiber predominance has been reported

•

en:increased length of endplate regions seen on muscle biopsy

•

en:rounded, atrophic fibers (family a)

•

en:chronic neurogenic changes seen on emg

•

en:decreased atp production

•

en:neonatal edema (in some patients)

•

en:muscles do not contract upon electrical stimulation

•

en:superficial rerouting of lymph through the skin

•

en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:difficulty walking, running, climbing stairs

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:cores extend along length of muscle fiber

•

en:fat pad anterior to malleolus

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:decreased muscle mass (especially in lower limbs)

•

en:distal limb muscle weakness and atrophy

•

en:muscle hypertrophy of the lower extremities

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:inability to jump or squat

•

en:limb muscle weakness, proximal, upper and lower

•

en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size

•

en:muscle atrophy restricted to the upper limb

•

en:slow motor responses to sudden events (i.e., falling)

•

en:increased fatty and connective tissue in skeletal muscle

•

en:acquire ability to walk and jump in childhood, but motor regression occurs later

•

en:type 1 fiber predominance

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:lymphedema, hands (rare)

•

en:tendinous and tuberous xanthoma

•

en:muscle biopsy shows small rounded fibers

•

en:usually no myopathic changes on biopsy

•

en:proximal and distal muscle atrophy

•

en:subsarcolemmal mitochondrial accumulation

•

en:muscle cramps may affect jaw muscles

•

en:muscle biopsy shows mild dystrophic changes

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:thenar amyotrophy (rare)

•

en:no ragged-red fibers

•

en:degenerating nerve terminals

•

en:non-pitting edema

•

en:shortening of various muscle-tendon groups in feet

•

en:muscle atrophy, lower limbs more affected than upper limbs

•

en:type 2 muscle fiber predominance

•

en:muscles have a woody consistency on palpation

•

en:minimal subcutaneous fat

•

en:attacks usually decrease or disappear after age 40 years

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:decreased muscle succinate dehydrogenase

•

en:affected muscles show atrophy

•

en:hamstring and quadriceps muscles mildly affected

•

en:muscle biopsy shows myofibrillar changes

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:increased connective tissue

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:lipodystrophy (in some patients)

•

en:onset of lymphedema around puberty

•

en:mild muscle atrophy in forearm muscles

•

en:quadriceps atrophy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:progressive loss of facial adipose tissue

•

en:necrotic and regenerating muscle fibers

•

en:muscle weakness after cooling or on warming affected muscle

•

en:pyruvate oxidation defect

•

en:secondary loss of sarcolemmal caveolin-3

•

en:myxedematous appearance

•

en:loss of subcutaneous adipose tissue in limbs

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:muscle fiber atrophy, profound (rare)

•

en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia)

•

en:dystrophic features

•

en:progressive distal muscle weakness

•

en:increased variation in muscle fiber diameter

•

en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers

•

en:muscle stiffness or aching

•

en:progressive proximal muscle weakness

•

en:muscle pain (less common)

•

en:muscle weakness restricted to the upper limb

•

en:upper limb muscle hypoplasia

•

en:proximal limb muscle weakness initially

•

en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

•

en:abdominal wall muscle weakness (later onset)

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:upper limb weakness

•

en:degenerative changes with increased connective tissue

•

en:muscle atrophy (variable)

•

en:decreased mitochondria

•

en:proximal and distal muscle atrophy in lower limbs

•

en:muscle atrophy, upper and lower limbs

•

en:angular fibers (in some patients)

•

en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg

•

en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:muscle weakness (hcs)

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:abnormal aggregation of mitochondria

•

en:lipodystrophy, generalized, panniculitis-induced (in some)

•

en:fatty infiltration of affected muscles

•

en:denuded postsynaptic regions

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal weakness, upper and lower limbs (variable)

•

en:increased internal nuclei

•

en:increased staining for myotilin, dystrophin, desmin

•

en:minicore regions are poorly defined and do not extend through entire fiber length

•

en:myofibrillar lesions

•

en:generalized muscle weakness (less common)

•

en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:muscle shows lipid accumulation

•

en:absence of laminin alpha-2 chain in muscle

•

en:upper limb involvement occurs later or not at all

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity

•

en:type 1 fibers are at least 12% smaller than type 2 fibers

•

en:pelvic girdle weakness and atrophy

•

en:muscle cramps (also seen in some heterozygotes)

•

en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:progression to proximal muscle weakness

•

en:rectus medial atrophy

•

en:edema (hands and feet)

•

en:generalized amyoplasia

•

en:angulated fibers

•

en:muscle biopsy shows dystrophic changes

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle biopsy shows lipid deposition

•

en:necrotic fibers

•

en:lipoatrophy (lower face, upper limb, buttock)

•

en:mild endplate myopathy

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest

•

en:decreased ability to run

•

en:sarcoplasmic inclusions

•

en:atrophic muscle fiber on biopsy

•

en:hypotonia, neonatal and later

•

en:decreased hand grip strength

•

en:attacks last 4 to 24 hours

•

en:distal muscle atrophy due to neuropathy

•

en:handgrip myotonia

•

en:abnormal iron deposition in mitochondria

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:usually a unilateral disorder

•

en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:myofibrillar disorganization

•

en:nuclear clumps

•

en:paralysis of the lower limbs (later)

•

en:nonspecific myopathy

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:prominent musculature

•

en:abnormal fatigue

◀

‹

821

en:repetitive action potentials in response to single nerve stimulation

•

en:imaging shows progressive fatty infiltration of muscle

•

en:inability to jump or squat

•

en:upper limb weakness

•

en:muscle pain and cramps following exercise

•

en:atrophy of neck muscles may occur later

•

en:finger and wrist extensor weakness

•

en:type 2 muscle fiber predominance

•

en:slow motor responses to sudden events (i.e., falling)

•

en:rimmed vacuoles with basophilic granular material

•

en:rimmed vacuoles on biopsy

•

en:merosin-positive biopsy

•

en:muscle fiber atrophy, profound (rare)

•

en:normal or increased facial and neck adipose tissue

•

en:increased connective tissue and fat in muscles

•

en:calf atrophy (later onset)

•

en:minicores extend full fiber diameter

•

en:calf muscle hypertrophy

•

en:vacuolar myopathy

•

en:transient neonatal hypotonia (less common)

•

en:pelvic girdle weakness and atrophy

•

en:low muscle mass

•

en:muscle aches, intermittent

•

en:reduced postsynaptic cleft area

•

en:patients achieve independent ambulation, but may lose it

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:hypotonia (45%)

•

en:hypotonia (untreated hypothyroidism)

•

en:ragged-red fibers on muscle biopsy

•

en:enlarged mitochondria

•

en:muscles have a woody consistency on palpation

•

en:myofibrillar lesions

•

hypoplasie glutéale

•

en:pectoralis hypoplasia

•

en:mild endplate myopathy

•

en:abnormal distribution of subcutaneous fat

•

en:thenar amyotrophy (rare)

•

en:muscle weakness, mild, proximal and distal

•

en:nonspecific muscle fiber atrophy

•

en:non-pitting edema

•

en:cores contain densely packed myofilaments

•

en:muscle atrophy (variable)

•

en:hyporeflexia in affected muscles

•

en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients)

•

en:internal nuclei

•

en:increased muscle lipid content

•

en:increased central nucleation

•

en:flaccid weakness or paralysis, episodic attacks

•

en:absence of necrosis

•

en:abnormal iron deposition in mitochondria

•

en:sarcoplasmic inclusions

•

en:distal limb muscle atrophy (less common)

•

en:generalized neonatal hypotonia

•

en:calf hypertrophy (less common)

•

en:generalized lack of subcutaneous fat

•

en:chronic neurogenic changes seen on emg

•

en:lymphedema of the extremities

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:increased fibrosis (family a)

•

en:decreased muscle mass

•

en:gluteal hypoplasia

•

en:skeletal muscle shows dystrophic changes

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:endomysial fibrosis

•

en:hypothenar muscle atrophy

•

en:quadriceps atrophy

•

en:lipodystrophy (in some patients)

•

en:severe muscle hypotonia at birth

•

en:myalgia, episodic

•

en:muscle fiber splitting

•

en:cytoplasmic inclusion bodies (finding)

•

en:attacks last 4 to 24 hours

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:exercise intolerance (less common)

•

en:decreased lactate clearance from muscle after exercise (reported in 1 patient)

•

en:distal muscle atrophy, affecting the lower limbs

•

en:myalgia (in some patients)

•

en:atrophic fibers

•

en:distal atrophy of the legs

•

en:swelling of the affected areas

•

en:z-disk streaming

•

en:calf hypertrophy (uncommon)

•

en:loss of ability to walk in early childhood

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:prominent involvement of the quadriceps femoris muscles

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:a subset of patients have aggravation on cold exposure ('cold paresis')

•

en:no ragged-red fibers

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows dystrophic changes

•

en:decreased muscle action potential after warming affected muscle

•

en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures

•

en:wheelchair dependency in 20% of patients by age 40

•

en:generalized amyoplasia

•

en:muscle atrophy restricted to the upper limb

•

en:inflammatory cells absent

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:type 1 fiber predominance

•

en:acquire ability to walk and jump in childhood, but motor regression occurs later

•

en:no rods

•

en:muscle biopsy shows chronic and active denervation

•

en:scapuloperoneal amyotrophy

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:retain some mechanical adipose tissue (joints, orbits, palms, soles)

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:severe form shows absence of spontaneous activity at birth

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:episodic weakness may or may not occur independent of myotonia

•

en:lymphedema, of upper and/or lower extremity (rare)

•

en:distal muscle weakness in lower limbs, severe

•

en:decreased shank muscle mass

•

en:distal muscle atrophy (lower limbs more affected than upper limbs)

•

en:dystrophic changes seen on muscle biopsy

•

en:distal lower limb amyotrophy

•

en:degenerative changes with increased connective tissue

•

en:decreased distal reflexes

•

en:abdominal muscle hypoplasia

•

en:fibrillations in affected muscles

•

en:abnormal aggregation of mitochondria

•

en:abnormal irregular myofibrillar network

•

en:increased fibrosis (in some patients)

•

en:hypotonia, neonatal, severe (hcs)

•

en:abnormal fat pad, buttocks and upper thighs (in some patients)

•

en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:normal dystrophin immunostaining

•

en:absence of immunostaining for alpha- and beta-dystroglycan (family b)

•

en:abnormal size and shape of synaptic endplates

•

en:distal leg muscle atrophy

•

en:abnormal fatigue

•

en:decreased glycosylation of alpha-dystroglycan

•

en:soft tissue or tendinous calcinosis may occur

•

en:muscle atrophy, limb-girdle and proximal

•

en:severe disability within 20 years of onset

•

en:increased endomysial connective tissue around muscle fibers

•

en:prominent muscular appearance

•

en:upper limb muscle hypoplasia

•

en:muscle weakness restricted to the upper limb

•

en:variable fiber size

•

en:sparing of anterior tibialis muscle

•

en:gastrocnemius and soleus muscles most affected

•

en:proximal muscle weakness (occasional)

•

en:muscle biopsy shows dystrophic features

•

en:some patients become wheelchair-dependent

•

en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia)

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:myopathy (rare)

•

en:myofibrillar disintegration

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:no dystrophic changes

•

en:necrotic and regenerating muscle fibers

•

en:muscle stiffness (in older patients)

•

en:muscle weakness is not a feature

•

en:vacuolar degeneration

•

en:generalized muscle weakness, proximal and distal

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:muscle hyperirritability

•

en:edema is present at birth and then slowly decreases

•

en:inability to stand on tiptoes

•

en:decreased thiamine pyrophosphate

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:handgrip myotonia

•

en:gluteus maximus and thigh adductors most affected

•

en:disorganization of the myofibrillar pattern

•

en:anterior tibial muscles first involved

•

en:type 1 muscle fiber predominance

•

en:nonspecific myopathy

•

en:absence of gamma-sarcoglycan protein

•

en:exercise-induced muscle stiffness

•

en:difficulty rising from a squatting position

•

en:weakness of neck muscles may occur later

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:muscle weakness (in some patients)

•

en:soft fleshy palms (50%)

•

en:increased variation in fiber size seen on muscle biopsy

•

en:subsarcolemmal mitochondrial accumulation

•

en:hip abductor weakness and atrophy

•

en:foot extensor muscle weakness (later onset)

•

en:weakness of ankle plantar flexion

•

en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest

•

en:pectoralis muscles may be less involved, leading to inward shrugging posture

•

en:sparing of small hand and finger muscles

•

en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs

•

en:usually no myopathic changes on biopsy

•

en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity

•

en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')

•

en:neck and proximal limb muscle myopathy

•

en:inclusion body myopathy

•

en:fiber type grouping

•

en:no lipodystrophy in face and neck

•

en:type 2 fiber hypertrophy

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:decreased postsynaptic length

•

en:hand and foot weakness

•

en:centralized nuclei, rare

•

en:biopsy shows dystrophic changes

•

en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course

•

en:amyotrophy, distal, upper and lower limbs

•

en:mildly increased mtdna

•

en:distal muscle weakness, mild

•

en:plasma membrane discontinuities

•

en:prolonged endplate potentials

•

en:hypotonia (families a and b)

•

en:decreased atp production

•

en:decreased quantal release

•

en:nonspecific myopathy seen on biopsy

•

en:atrophy of the lower leg muscles

•

en:increased connective tissue

•

en:heterotopic bone formation in subcutaneous fat

•

en:hypotonia, profound

•

en:lymphedema, dorsa of feet

•

en:distal muscle weakness occurs later

•

en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers

•

en:reduced muscle bulk

•

en:abdominal wall muscle weakness (later onset)

•

en:poor musculature

•

en:sparing of the anterior tibial compartment

•

en:walking may be limited

•

en:symptoms may be induced by heat

•

en:levator palpebrae superioris atrophy

•

en:muscle weakness in forearm muscles

•

en:no muscle fiber necrosis

•

en:electromyographic decrements in some muscles

•

en:muscle mounding

•

en:exercise-induced muscle fatigue

•

en:lipoatrophy, generalized

•

en:lipohypoplasia, regional

•

en:involves upper and lower proximal muscles

•

en:muscles become hard and tender during exercise

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:dependent edema after excess fat has been present for several years

•

en:muscle biopsy shows type 1 fiber predominance

•

en:hypoplasia of the hand muscles (29%)

•

en:generalized limb muscle atrophy

•

en:by fourth decade, many patients need help with ambulation

•

en:dystrophic changes on biopsy

•

en:increased variation in muscle fiber diameter

•

en:decreased cytochrome c oxidase staining

•

en:proximal and distal muscle atrophy in lower limbs

•

en:proximal weakness

•

en:progressive interictal weakness is common

•

en:increased variability in muscle fiber diameter

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:pelvic muscle involvement occurs later

•

en:no muscle weakness

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:biceps brachii atrophy

•

en:areflexia due to muscle weakness

•

en:muscle weakness, proximal, limb-girdle

•

en:distal muscle weakness, occurs initially

•

en:increased muscle glycogen content

•

en:upper limb involvement occurs later or not at all

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:type 1 fiber atrophy

•

en:shortening of various muscle-tendon groups in feet

•

en:absence of laminin alpha-2 chain in muscle

•

en:limb-girdle muscle atrophy

•

en:slowly progressive limb-girdle myopathy

•

en:muscle biopsy shows myofibrillar myopathy

•

en:hypotrophy of type 1 fibers

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:shoulder weakness and atrophy

•

en:minipolymyoclonus

•

en:superficial rerouting of lymph through the skin

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:atrophy of anterior compartment tibial muscles

•

en:cellulitis or infection may occur

•

en:attacks relieved by potassium administration

•

en:decremental cmap response to repetitive nerve stimulation

•

en:lack of antigravity movements (patient b)

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:distal muscle weakness due to neuropathy

•

en:angular fibers (in some patients)

•

en:distal muscle weakness, lower legs

•

en:muscle biopsy shows loss of type 2a fibers

•

en:inability to stand or walk (in severe cases)

•

en:muscle weakness, congenital

•

en:endplate myopathy

•

en:asymmetric muscle involvement

•

en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg

•

en:decreased muscle bulk

•

en:muscle weakness, proximal limb muscle, mild to moderate

•

en:muscle biopsy shows myofibrillar disruption

•

en:distal weakness, upper and lower limbs (variable)

•

en:muscle wasting in lower limbs

•

en:difficulty rising from chair

•

en:increased centralized internal nuclei

•

en:muscle pain with exercise (in older patients)

•

en:marked muscular hypertrophy

•

en:increased staining for myotilin, dystrophin, desmin

•

en:lipid droplet accumulation

•

en:loss of adipose tissue occurs around puberty

•

en:decreased lipoic acid

•

en:facial muscle weakness and atrophy, progressive

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:fiber size variation

•

en:abnormal mitochondria with loss of cristae

•

en:hypoplasia of serratus anterior muscle

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:mild variability in muscle fiber size

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)

•

en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy

•

en:distal lower limb muscle weakness and atrophy

•

en:neck flexor weakness

•

en:centralized nuclei may be seen

•

en:decreased hand grip strength

•

en:decreased muscle succinate dehydrogenase

•

en:electromyography shows myotonic discharges

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton

•

en:apoptotic nuclei

•

en:shoulder girdle muscle atrophy

•

en:proximal limb muscle weakness initially

•

en:premature exertional muscle weakness

•

en:rectus fascia separation

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

•

en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles

•

en:quadriceps muscle spared

•

en:normal mitochondrial morphology (1 patient)

•

en:respiratory muscles may be involved (more common in juvenile-onset)

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:degenerating nerve terminals

•

en:independent walking may not be achieved

•

en:muscle atrophy in the limbs

•

en:centralized myonuclei

•

en:atrophy of ankle and toe extensor (dorsiflexor) muscles

•

en:angulated fibers

•

en:muscle biopsy shows small rounded fibers

•

en:myotonia improves with continued activity ('warm-up phenomenon')

•

en:myotonic discharges

•

en:myopathic changes on pathology

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle wasting due to chronic denervation

•

en:muscle biopsy shows fiber type disproportion

•

en:uterine muscle may be stiff during pregnancy

•

en:positive staining for slow myosin heavy chain

•

en:soft tissue vascular malformations

•

en:painful swelling in fasciae

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:reduced muscle mass

•

en:rhabdomyolysis with exercise (in older patients)

•

en:type 2 muscle fiber atrophy

•

en:difficulty climbing stairs, jumping, running

•

en:thickening of the fascial structures of the palm and fingers

•

en:shortened open channel duration

•

en:fiber necrosis

•

en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma

•

en:fat pad anterior to malleolus

•

en:absence of spontaneous activity at birth (severe form)

•

en:angulated atrophic muscle fibers

•

en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:a subset of patients develop bilateral weakness

•

en:congenital absence of gluteal muscles

•

en:neurogenic atrophy

•

en:weakness worsened by activity

•

en:hypertonia at birth

•

en:small nerve terminals

•

en:focal loss of cross striations seen on muscle biopsy

•

en:hypotonia, generalized, severe

•

en:preserved junctional folds

•

en:wasting, especially temporal, neck, and facial muscles

•

en:lipid storage, mainly in type i fibers

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients)

•

en:lymphedema (primarily in lower limbs, but also arms in some patients)

•

en:decreased numbers of achr seen on muscle biopsy

•

en:repetitive response to single nerve stimulation

•

en:fatty replacement

•

en:myofibril destruction (in some patients)

•

en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles

•

en:loss of truncal subcutaneous adipose tissue

•

en:distal muscle weakness and atrophy

•

en:muscle pain (less common)

•

en:muscle stiffness or aching

•

en:quadriceps atrophy (later onset)

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:patients may have distal or proximal muscle weakness, or both

•

en:loss of subcutaneous adipose tissue in limbs

•

en:nemaline bodies occur in type 1 fibers

•

en:muscle weakness, proximal, slowly progressive

•

en:myxedematous appearance

•

en:limb-girdle myopathy

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:lipoatrophy of trunk

•

en:proximal muscle weakness (85% of patients)

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:marked lack of adipose tissue

•

en:loss of independent ambulation around age 12 years

•

en:muscle biopsy shows increased variation in fiber size

•

en:hypoplasia of supraspinatus muscle

•

en:muscle weakness, upper and lower limbs

•

en:calf pseudohypertrophy rare

•

en:fiber size variation seen on muscle biopsy

•

en:minicore regions are poorly defined and do not extend through entire fiber length

•

en:muscle fiber necrosis

•

en:edema reoccurs with infections

•

en:pyruvate oxidation defect

•

en:hypotonia, truncal and appendicular

•

en:increased subcutaneous truncal adipose tissue

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:muscle biopsy shows glycogen storage

•

en:increased intramuscular fat

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:muscle shows lipid accumulation

•

en:distal muscle weakness may occur

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

•

en:myotonia, potassium-sensitive (may be responsive to acetazolamide)

•

en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes

•

en:distal muscle atrophy due to denervation

•

en:fasciculations (less common)

•

en:progressive distal and proximal symmetric limb weakness

•

en:muscle atrophy, lower limbs more affected than upper limbs

•

en:z-disk degeneration

•

en:calf hypertrophy (early in the disease)

•

en:muscle weakness is predominantly of extremities and tongue

•

en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade)

•

en:rectus medial atrophy

•

en:shoulder weakness

•

en:shoulder muscle hypoplasia

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:angulated atrophic fibers

•

en:painful muscle cramps

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:vacuoles are autophagocytic

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:variation of myofiber diameter

•

en:attacks precipitated by rest after exercise

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:myotonia is present in majority of cases

•

en:vacuoles in the myofiber cytoplasm

•

en:abnormalities in myofibril organization

•

en:calf muscle discomfort

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:difficulty walking, running, climbing stairs

•

en:acetazolamide may worsen symptoms

•

en:hypotonia (patients a and c)

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:neonatal edema (in some patients)

•

en:distal muscles may be affected

•

en:reduced muscle tone

•

en:minimal muscle mass

•

en:degenerating junctional folds

•

en:difficulty walking and climbing stairs (patient a)

•

en:rounded, atrophic fibers (family a)

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:secondary myopathic features

•

en:cores extend along length of muscle fiber

•

en:increased length of endplate regions seen on muscle biopsy

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:muscle biopsy shows no dystrophic changes

•

en:hangrip myotonia

•

en:rhabdomyolysis may occur

•

en:ragged-red muscle fibers

•

en:deep finger muscle weakness

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization

•

en:peroneal muscle atrophy

•

en:increased lipid droplets and abnormal mitochondria

•

en:muscle weakness usually does not occur

•

en:foot dorsiflexor weakness

•

en:distal limb muscle weakness and atrophy

•

en:distal muscle atrophy due to neurologic disease

•

en:bilateral facial weakness (congenital form)

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased muscle mitochondrial aconitase

•

en:congophilic inclusions

•

en:decreased glutamate oxidation (about 63% of normal)

•

en:hip girdle muscle atrophy

•

en:generalized muscle wasting

•

en:hamstring and quadriceps muscles mildly affected

•

en:atrophy of the muscles in the anterior compartment of the lower leg

•

en:motor clumsiness

•

en:congophilic staining

•

en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:gait abnormalities (occurs later)

•

en:poor head control in infancy

•

en:muscle weakness associated with fasting or infection

•

en:muscle biopsy shows merosin (156225)-positive muscle fibers

•

en:nemaline rod formation

•

en:progressive loss of facial adipose tissue

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:dorsal and flexor muscles of the forearm are involved

•

en:velopharyngeal muscle weakness

•

en:no staining for oxidative enzymes

•

en:decreased caveolae in muscle tissue

•

en:progressive distal muscle weakness

•

en:necrotic fibers

•

en:weakness of long finger extensor muscles (occurs later)

•

en:tendinous and tuberous xanthoma

•

en:interosseus muscles involved

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

en:prominent musculature

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:symptoms are progressive for a few years, and then become stationary

•

en:mitochondrial paracrystalline inclusion bodies

•

en:phagocytic vacuoles with degraded membranous material

•

en:ragged-red fibers seen on muscle biopsy

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:reduced ankle dorsiflexion

•

en:mild weakness

•

en:potassium sensitivity has been reported

•

en:primarily affects lower limbs

•

en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy

•

en:decreased activity of cytochrome c oxidase seen on muscle biopsy

•

en:denuded postsynaptic regions

•

en:degenerating fibers

•

en:absence of merosin in muscle

•

en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin

•

en:variation in skeletal muscle fiber diameter

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:degeneration of junctional folds

•

en:increased glycogen

•

en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy

•

en:muscle atrophy, upper and lower limbs

•

en:increased connective tissue and fat

•

en:decreased achr

•

en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction

•

en:generalized muscular appearance from birth

•

en:muscle weakness (hcs)

•

en:easy bruisability of lower extremities

•

en:generalized muscle weakness (less common)

•

en:increased fatigue

•

en:pain or cramping during sustained manual activity

•

en:muscle biopsy may show inflammatory changes

•

en:muscle biopsy shows rimmed vacuoles

•

en:limb muscle weakness, proximal, upper and lower

•

en:difficulty walking on heels occurs prior to difficulty walking on toes

•

en:muscle fiber regeneration

•

en:lipodystrophy, generalized, panniculitis-induced (in some)

•

en:muscle biopsy shows myopathic changes

•

en:lymphedema of the lower limbs (swelling is confined to below the knees)

•

en:increased intraabdominal fat

•

en:attacks precipitated by cold temperature

•

en:exertional fatigue

•

en:mitochondria show paracrystalline inclusions

•

en:muscle weakness, predominantly proximal

•

en:muscle biopsy shows centralized nuclei

•

en:muscle cramps, painful, recurrent

•

en:myofibrillar disorganization

•

en:tremors subside over the first 2 to 3 months of life

•

en:swelling of the extremities, episodic

•

en:proximal lower limb amyotrophy

•

en:increased endo- and perimysial connective tissue

•

en:glycogen depletion in skeletal muscle

•

en:paralysis of the lower limbs (later)

•

en:nuclear clumps

•

en:granular deposits in the sarcomeres

•

en:respiratory distress (congenital form)

•

en:onset of lymphedema around puberty

•

en:muscle weakness and atrophy may be asymmetric

•

en:neurogenic atrophy seen on muscle biopsy

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:distal limb muscle weakness occurs later

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:increased adipose fibrosis

•

en:no facial muscle involvement

•

en:muscle biopsy shows lipid deposition

•

en:lymphedema (lower limb)

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:lipoatrophy (lower face, upper limb, buttock)

•

en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy

•

en:muscle fibers may contain abnormal polysaccharide

•

en:smooth muscle may also become involved

•

en:eosinophilic inclusions

•

en:proximal and distal muscle atrophy

•

en:myopathy in approximately 45% of patients

•

en:lymphedema, hands (rare)

•

en:firm muscles

•

en:increased perisarcolemmal calcium deposition

•

en:weakness and wasting of the lower limbs

•

en:myotonia is usually not seen

•

en:normal or increased abdominal adipose tissue

•

en:progression to proximal muscle weakness

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:z-band streaming

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:exercise-induced weakness

•

en:loss of gluteal adipose tissue

•

en:distal muscle atrophy due to neuropathy

•

en:generalized muscle weakness, severe

•

en:decreased cytochrome c oxidase activity

•

en:decreased adipose tissue around neck

•

en:attacks precipitated by potassium

•

en:excess fat, symmetrically located in buttocks and lower extremities to ankles

•

en:atrophic calf muscles

•

en:fatty infiltration of affected muscles

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy

•

en:decremental cmap response to repetitive nerve stimulation seen on emg

•

en:leg cramps may occur with exercise

•

en:repetitive response to single nerve stimulus

•

en:preserved junctional structure seen on muscle biopsy

•

en:accelerated decay of the synaptic current

•

en:muscle weakness, lower limbs (patient a)

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:widening of the synaptic cleft

•

en:fiber type variation

•

en:atrophy of the intrinsic foot and hand muscles

•

en:hamstring muscle affected

•

en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:secondary loss of sarcolemmal caveolin-3

•

en:atrophic muscle fiber on biopsy

•

en:congenital, nonprogressive myopathy

•

en:attacks usually decrease or disappear after age 40 years

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:muscle weakness, proximal and distal

•

en:superior rectus atrophy

•

en:prominent involvement of the biceps brachii muscles

•

en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers

•

en:muscle cramps during exercise

•

en:hip flexor weakness

•

en:glycogenosis of skeletal muscle, mild (in some patients)

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:calf hypertrophy (reported in 1 family)

•

en:muscle atrophy later in the disease

•

en:increased fatty infiltration

•

en:progression to wheelchair in fourth decade

•

en:hypotonia (2 patients)

•

en:muscle biopsy shows variation in fiber size

•

en:loss of subcutaneous fat, generalized

•

en:muscle weakness after cooling or on warming affected muscle

•

en:proximal muscle weakness, mild

•

en:dystrophic changes

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:normal neonatal period may occur before weakness is apparent

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits

•

en:rhabdomyolysis, episodic and recurrent

•

en:hypotonia, neonatal and later

•

en:difficulty in toe walking

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:myopathy, mild to severe

•

en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:deposits immunoreactive to beta-amyloid protein

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:imaging shows muscle atrophy and fatty replacement

•

en:proximal lower limb muscle weakness, upper and lower (later onset)

•

en:mild muscle atrophy in forearm muscles

•

en:tubulofilamentous inclusions

•

en:proximal muscle weakness occurs later

•

en:poor muscle build

•

en:increased numbers of type 1 fibers

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:myotonia is most pronounced in the extremities

•

en:large lipid droplets

•

en:muscle biopsy shows mild dystrophic changes

•

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:hypoplasia of cervical paravertebral muscles

•

en:proximal limb muscle weakness (occurs later)

•

en:loss of antigravity strength

•

en:muscle weakness, severe, diffuse

•

en:myopathic findings on biopsy have been occasionally reported

•

en:variation of fiber size and shape

•

en:increased fatty and connective tissue in skeletal muscle

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:muscular appearance

•

en:muscle cramps (also seen in some heterozygotes)

•

en:tubular aggregates in muscle fibers may occur

•

en:type 1 fibers are at least 12% smaller than type 2 fibers

•

en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased lysosomal glycogen

•

en:humeroperoneal weakness and atrophy

•

en:distal muscle weakness, affecting the lower limbs

•

en:dystrophic changes occur later

•

en:edema at birth

•

en:deltoid muscle hypoplasia

•

en:biopsy shows defects in pyruvate oxidation

•

en:disorganization of the neuromuscular junction

•

en:decreased mitochondria

•

en:autophagic rimmed vacuoles

•

en:large hypertrophied fibers

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:wasting of calf muscles (rare)

•

en:muscles do not contract upon electrical stimulation

•

en:increased variation in fiber size (in some patients)

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:abnormal fiber size variation

•

en:decreased miniature endplate potential (mepp) and current (mepc)

•

en:tendon tears

•

en:increased internal nuclei

•

en:decreased endplate potential and amplitudes

•

en:calf muscle pseudohypertrophy

•

en:triceps weakness

•

en:tenderness of lower extremities

•

en:muscle cramps affect the upper and lower limbs

•

en:abnormal mitochondria

•

en:decreased muscle density on imaging

•

en:normal or decreased facial and neck adipose tissue

•

en:hyaline plaques with absent oxidative activity

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:rhabdomyolysis, episodic

•

en:normal or increased adipose tissue around the neck

•

en:z-disks with abnormal homogeneous material

•

en:nemaline bodies are rarely intranuclear

•

en:retroperitoneal fibrosis (rare)

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:poor exercise tolerance

•

en:normal or increased truncal adipose tissue

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:muscle biopsy shows dystrophic pattern

•

en:onset of weakness in hands and feet

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:usually a unilateral disorder

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber

•

en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:proximal upper limb amyotrophy

•

en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:pectoralis major hypoplasia

•

en:difficulty running or inability to run

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:limb-girdle muscle weakness, proximal, upper greater than lower

•

en:affected muscles show atrophy

•

en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands

•

en:hyaline inclusion

•

en:congophilic amyloid material

•

en:edema (hands and feet)

•

dégénérescence vacuolaire

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness of the face and neck, mild to moderate

•

en:decreased ability to run

•

en:mallory-like bodies

•

en:proximal muscle weakness in upper limbs

•

en:muscle mitochondria normal by histochemical analysis

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:muscle cramps may affect jaw muscles

•

en:tetanus-like muscle contractions

•

en:z-line streaming see on electron microscopy

•

en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers

•

en:minimal subcutaneous fat

•

en:cranial muscles spared

•

en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)

•

en:muscle weakness and atrophy, proximal

•

en:vacuolar myopathy may occur

•

en:shortening of flexor profundus muscle-tendon unit

•

en:rectus abdominis muscle separation

•

en:lymphedema of the hands (in some patients)

•

en:mild weakness of the small hand muscles

•

en:dystrophic changes may be present

•

en:cytochrome c oxidase-negative fibers

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows decrease or absence of cytochrome c oxidase

•

en:congophilic deposits

•

en:muscle biopsy shows myofiber degeneration

•

en:atrophy of the thenar and hypothenar muscles

•

en:loss of ambulation between third and sixth decade

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:lymphangitis, episodic

•

en:muscle hypertrophy of the lower extremities

•

en:mitochondrial proliferation

•

en:cores or minicores

•

en:absence of myotonia in infancy (congenital form)

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:loss of ambulation

•

en:internal nuclei (in some patients)

•

en:scattered necrotic fibers

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:increased internal nuclei (in some patients)

•

en:increased glycogen in muscle (but to a lesser extent than in the heart)

•

en:muscle weakness, particularly of the lower limbs

•

en:myopathic features seen on emg

•

en:decreased muscle bulk (in one patient)

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:absence of telethonin protein

•

en:muscle atrophy appears later in disease course

•

en:myopathy, nonprogressive

•

en:distal limb muscle weakness (less common)

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:edema, subcutaneous, generalized

•

en:both type 1 and type 2 fiber predominance has been reported

•

en:weakness of anterior compartment tibial muscles

•

en:some patients never achieve ambulation

•

en:limb weakness and atrophy

•

en:replacement of affected muscle tissue with fatty tissue

•

en:muscle atrophy, progressive

•

en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)

•

en:progressive proximal muscle weakness

•

en:thickened subcutaneous tissue

•

en:dystrophic features

•

en:lipomas or lipomatous masses (most cases)

•

en:patchy muscle fiber degeneration

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows core-like regions devoid of oxidative activity

•

en:red-ragged fibers (2p21del)

•

en:poor muscle bulk

•

dégénérescence cavitaire

•

altération cavitaire

•

* % production

◀

Génériques

[F] [H]

›

en:hypotonia

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094468 • caches: c1=8 c2=824 c3=822

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]