Le Diko - en:pseudoathletic appearance with prominent muscles before disease onset

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Le Diko - en:pseudoathletic appearance with prominent muscles before disease onset

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en:pseudoathletic appearance with prominent muscles before disease onset

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:wide variation in fiber size

•

en:symptoms may be induced by heat

•

en:signs of denervation seen on biopsy

•

en:loss of subcutaneous fat

•

en:muscle weakness (in some patients)

•

en:reduced postsynaptic cleft area

•

•

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

•

en:decreased activity of cytochrome c oxidase (in most cases)

•

en:myopathic features seen on emg

•

en:neck muscle hypoplasia

•

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

•

en:abnormalities in myofibril organization

•

en:muscle fatigue

•

•

en:myofibroma (in 1 patient)

•

en:muscle hypotonia

•

en:decreased thiamine pyrophosphate

•

en:muscle biopsy shows inflammation with t cells

•

en:fiber type variation seen on biopsy

•

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

•

en:calf hypertrophy (reported in 1 family)

•

en:skeletal muscle tissue shows depletion of mitochondrial dna (mtdna)

•

en:scapular muscle weakness

•

en:pseudohypertrophy of muscle

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:muscle weakness, proximal greater than distal

•

en:weakness of neck muscles may occur later

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:redundancy of basal lamina with accumulated debris

•

en:nonspecific muscle fiber atrophy

•

en:muscle wasting, severe, primarily in the legs

•

en:fasciculations (in some patients)

•

en:emg - repetitive muscle discharges

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:calf hypertrophy (less common)

•

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

•

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

•

en:muscle weakness after cooling or on warming affected muscle

•

en:ankle clonus

•

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

•

en:cox-negative fibers seen on muscle biopsy

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:normal or increased abdominal adipose tissue

•

en:painful swelling in fasciae

•

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

•

en:increased fatigue

•

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

•

en:muscle biopsy shows nemaline bodies (rods) on gomori trichrome staining

•

en:attacks of weakness

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:heterotopic bone formation in subcutaneous fat

•

en:hypotonia (patients a and c)

•

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

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

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

•

en:preservation of visceral, neck, and axillary fat pads

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:some abnormal aggregation of mitochondria

•

en:vacuole membranes show atpase reactivity consistent with origin from the sarcoplasmic reticulum

•

en:areflexia due to muscle weakness

•

en:impaired mitochondrial respiration

•

en:independent walking may not be achieved

•

en:prolonged miniature endplate currents

•

en:hypotonia at birth

•

en:mildly decreased cytochrome c oxidase activity

•

en:loss of ambulation

•

en:increased muscle tone, neonatal (in severely affected patients)

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:deep finger muscle weakness

•

en:decreased numbers of type 2b fibers

•

en:decreased mitochondrial respiratory chain enzyme activity (patient b)

•

en:muscles become hard and tender during exercise

•

en:mtdna deletions seen on muscle biopsy

•

en:marked muscular hypertrophy

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:deep rerouting of lymph in lower limbs seen on lymphoscintigraphy

•

en:muscle biopsy shows variation in fiber size

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:rhabdomyolysis may occur

•

en:progression to wheelchair in fourth decade

•

en:hyaline inclusion

•

en:decreased collagen vi

•

en:autophagic rimmed vacuoles

•

en:amyotrophy (1 patient)

•

en:variability in fiber size

•

en:rounded, atrophic fibers (family a)

•

en:muscle rigidity

•

en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

•

en:biopsy muscle normal

•

en:emg shows myopathic changes

•

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

•

en:muscle weakness (hcs)

•

en:normal alpha-glucosidase or acid maltase activity (gaa, 606800)

•

en:muscles do not contract upon electrical stimulation

•

en:proximal limb muscle weakness initially

•

en:tetanus-like muscle contractions

•

en:atrophy of upper girdle muscles

•

en:disruption of sarcomeres with disorganization of the z band

•

en:mitochondria dna deletion

•

en:muscle weakness, proximal, upper and lower limbs affected

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:fatty deposition

•

en:emg may show neurogenic changes

•

en:muscle atrophy (type i)

•

en:preserved junctional folds

•

en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas

•

en:hypotonia (45%)

•

en:disuse atrophy

•

en:multiple mitochondrial dna deletions

•

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

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle pain (less common)

•

en:muscle weakness, particularly of the lower limbs

•

en:muscle weakness is not a feature

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle weakness of limb

•

en:normal muscle fiber (hcs)

•

en:proximal muscles more often affected

•

en:thenar eminence hypoplasia

•

en:type 1 fiber predominance

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:fiber size variation seen on biopsy (in some patients)

•

•

en:lipoatrophy of trunk

•

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

•

en:no lipodystrophy in face and neck

•

en:decreased endplate potential and amplitudes

•

en:decreased hand grip strength

•

en:edema is present at birth and then slowly decreases

•

en:increased focal mitochondrial density

•

en:involves upper and lower proximal muscles

•

en:lack of integrin alpha-7 staining

•

•

en:disorganized myofilaments seen on muscle biopsy

•

en:pelvic girdle muscle atrophy

•

en:panniculitis

•

en:patients achieve independent ambulation, but may lose it

•

en:prolonged endplate potentials

•

en:peroneal muscle atrophy

•

en:positive staining for complement c5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane

•

en:predominantly lower limb lymphedema

•

en:necrotic changes (finding)

•

en:prominent involvement of the quadriceps femoris muscles

•

en:no ragged-red fibers

•

en:myofibrillar disorganization

•

en:neck flexor weakness

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

•

en:myoclonic spasms

•

en:muscular atrophy

•

en:muscle wasting in lower limbs

•

en:muscle stiffness or aching

•

en:muscle hypertrophy may occur

•

en:muscle biopsy with small a-fibers, increased pas-positive material, and ringbinden (disoriented myofibrils)

•

en:rectus abdominis muscle separation

•

en:protein aggregates immunopositive for actin and desmin

•

en:tubular aggregates seen on biopsy

•

en:rectus medial atrophy

•

en:umbilical depression

•

en:attacks may present during or after sleep

•

en:angular atrophic fibers

•

en:amyotrophy, distal, upper and lower limbs

•

en:aggregates contain granular electron-dense material

•

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

•

en:abnormal aggregates of desmin and filamin c

•

en:widening of the synaptic cleft

•

en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs

•

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

•

en:unable to walk

•

en:type 2 muscle fiber predominance

•

en:reduced muscle bulk

•

en:muscle biopsy shows lipid deposition

•

en:triceps weakness

•

en:symmetrical muscle wasting

•

en:subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:structurally abnormal mitochondria

•

en:small round skeletal muscle fibers

•

en:small or absent axon terminals

•

en:severe muscle hypotonia at birth

•

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

•

en:replacement of affected muscle tissue with fatty tissue

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

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

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:emg shows neurogenic changes

•

en:emg shows myopathy

•

en:emg shows fibrillation potentials

•

en:electron microscopy shows dense material emanating from the z-disk

•

en:electromyogram abnormal

•

en:dystrophic changes seen on muscle biopsy

•

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

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:disruption of the m-line

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:exercise-induced myalgia

•

en:decreased activities of complexes i and iv

•

en:congenital fiber type disproportion

•

en:chronic neurogenic changes seen on emg

•

en:biopsy shows myopathic and dystrophic changes

•

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

•

en:autophagosome

•

en:angulated atrophic muscle fibers

•

en:abnormal iron deposition in mitochondria

•

en:abnormal aggregation of mitochondria

•

en:broad-based gait

•

en:evidence of reinnervation seen on emg (1 family)

•

en:facial muscle weakness and atrophy, progressive

•

en:muscle biopsy shows chronic and active denervation

•

en:increased fatty and connective tissue in skeletal muscle

•

en:muscle atrophy (in some patients)

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle atrophy, distal, particularly affecting the hands muscle biopsy shows variation in fiber size

•

en:multi-core congenital myopathy

•

en:mitochondrial swelling

•

en:mitochondrial dna deletions (in some patients)

•

en:minicores extend full fiber diameter

•

en:mild atrophy of the proximal lower limbs

•

en:lymphedema, hands (rare)

•

en:loss of facial adipose tissue

•

en:inclusions are dnajb6-immunoreactive

•

en:fatty infiltration seen on muscle biopsy

•

en:hypotonia (patient b)

•

en:hypotonia (1 patient)

•

en:hypotonia, neonatal and later

•

en:hypertonia late

•

en:handgrip myotonia

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized muscle weakness (less common)

•

en:finger and wrist extensor weakness

•

en:fibrous dysplasia (rare)

•

en:fiber-type variability

•

en:attacks precipitated by potassium

•

en:disorganization of the myofibrillar pattern

•

en:calf and thigh cramping muscle pains

•

en:muscle weakness increases with age

•

en:numerous vacuole-like areas

•

•

en:neurogenic changes seen on emg

•

en:neonatal hypertonias

•

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

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myasthenic syndrome (hcs)

•

en:muscular dystrophy (in some patients)

•

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

•

en:muscle weakness associated with fasting or infection

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:muscle weakness (type i)

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle weakness, proximal more than distal

•

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

•

en:muscle biopsy shows ragged-red fibers with decreased cox activity

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle atrophy restricted to the upper limb

•

en:pectoralis hypoplasia

•

en:positive staining for slow myosin heavy chain

•

en:mild muscle atrophy in forearm muscles

•

en:small miniature endplate currents (mepc)

•

en:calf hypertrophy (uncommon)

•

en:weakness and wasting of the lower limbs

•

en:vacuoles are autophagocytic

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:tendon tears

•

en:tenderness of lower extremities

•

en:subsarcolemmal mitochondrial aggregates

•

en:soft tissue vascular malformations

•

en:soft fleshy palms (50%)

•

en:small nerve terminals

•

en:skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna (mtdna)

•

en:prominent muscular appearance

•

en:severe muscle wasting and atrophy, primarily in the legs

•

en:rupture of muscle

•

•

en:rhabdomyolysis, episodic

•

en:retroperitoneal fibrosis (rare)

•

en:reduced subcutaneous adipose tissue

•

en:rectus fascia separation

•

en:ragged red fibers (in some patients)

•

en:proximal muscle weakness occurs later

•

en:proximal muscle weakness, mild (in some patients)

•

en:mri may show cervical spinal cord atrophy

•

en:poor exercise tolerance

•

en:lymphedema, dorsa of feet

•

en:decreased or absent ankle reflexes

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:dystrophic changes

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:distal muscle weakness, mild

•

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

•

en:distal lower limb amyotrophy

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:decreased quantal release

•

en:decreased muscle mass (especially in lower limbs)

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:decreased muscle bulk (in one patient)

•

en:decreased levels and activity of mitochondrial respiratory complexes i and iv

•

en:decreased cytochrome c oxidase staining

•

en:decreased activity of mitochondrial complex iii

•

en:cox-deficient fibers

•

en:congophilic inclusions

•

en:coenzyme q10 deficiency

•

en:chronic denervation seen on emg

•

en:limb-girdle muscle weakness

•

en:cellulitis in lower limbs, recurrent

•

en:edema (hands and feet)

•

en:difficulty running or inability to run

•

en:emg shows myopathic and neurogenic changes

•

en:head drop due to neck muscle weakness

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:infantile muscular hypotonia

•

en:emg shows reduction of voluntary recruitment

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased t-2 signal in muscles of lower extremities on mri (in some patients)

•

en:increased number of endplate regions distributed over increased span of muscle fiber

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:increased fiber size variability

•

en:hypotonia, infantile, severe

•

en:hyporeflexia of lower limbs

•

en:hyperactive deep tendon reflexes

•

en:hypotonia, generalized, severe

•

en:hamstring muscle affected

•

en:forearm muscle weakness

•

en:exercise-induced muscle stiffness

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:fiber necrosis

•

en:fiber size variation seen on muscle biopsy

•

en:facial edema

•

en:gait abnormalities (occurs later)

•

en:generalized neonatal hypotonia

•

en:giant granules in muscle cells

•

en:muscle cramp

•

en:mitochondrial proliferation

•

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

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle atrophy, upper and lower limbs

•

en:muscle atrophy, progressive

•

en:mri of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment

•

en:mitochondria show paracrystalline inclusions

•

•

en:mitochondrial dna depletion (in some)

•

en:mild muscle weakness

•

en:mild distal muscle atrophy

•

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

•

en:lymphedema of the extremities

•

en:lower limbs more often affected

•

en:lower and upper limbs affected

•

en:loss of independent ambulation around age 12 years

•

en:lipomas or lipomatous masses (most cases)

•

en:limb hypertonia

•

en:muscle weakness, distal, restricted to the lower limbs

•

en:internal nuclei (in some patients)

•

en:muscle wasting, progressive

•

en:proximal and distal muscle atrophy in lower limbs

•

en:muscle weakness, distal and proximal, lower limbs (1 family)

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:ragged-red fibers seen on muscle biopsy

•

en:quadriceps atrophy (later onset)

•

en:proximal amyotrophy

•

en:progressive distal and proximal symmetric limb weakness

•

en:postexercise cmap amplitude facilitation

•

en:poor muscle build

•

en:poor development of the postsynaptic membrane

•

en:polyglucosan accumulation

•

en:pelvic muscle involvement occurs later

•

en:pelvic girdle weakness

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:muscle weakness, episodic

•

en:no staining for oxidative enzymes

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:necrotic muscle fibers

•

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

•

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

•

en:myogenic profile on electromyography

•

•

en:myalgia (in some patients)

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness, severe

•

en:muscle weakness, primarily proximal

•

en:increased intramuscular fat

•

en:ascites (in some patients)

•

en:increased fibrosis (in some patients)

•

en:cores extend along length of muscle fiber

•

en:delayed motor development (cvs+)

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:decreased respiratory complex i+iii and ii+iii activity

•

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

•

en:decreased muscle mass (especially of limbs)

•

en:decreased mtdna

•

en:decreased lipoic acid

•

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

•

en:decreased activity of complex i and complex iv

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

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

•

en:congophilic amyloid material

•

en:deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:centrally located nuclei seen on muscle biopsy

•

en:calf muscle hypertrophy

•

en:calf muscle discomfort

•

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

•

en:atrophy of neck muscles may occur later

•

en:abnormal sarcoplasmic reticulum elements

•

en:abnormal jitter

•

en:abnormal fiber size variation

•

en:abnormal fatigue

•

en:rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)

•

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

•

en:difficulty raising arms

•

en:increased fat and fibrous tissue

•

en:focal degeneration of junctional folds ('honeycombed' appearance) see on muscle biopsy

•

en:increased endomysial fibrosis

•

en:inability to stand on tiptoes

•

en:imaging shows progressive fatty infiltration of muscle

•

en:hypotonia, neonatal, severe (hcs)

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:humeroperoneal weakness and atrophy

•

•

en:group fiber atrophy (in some patients)

•

en:gowers sign (in some patients)

•

en:global muscle weakness

•

en:generalized muscle hypertrophy

•

en:floppy infant syndrome

•

en:difficulty rising from chair

•

en:fiber type grouping

•

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

•

en:emg and muscle biopsy shows chronic denervation of the peripheral nerves

•

en:edematous hands and feet (1 patient)

•

en:distal skeletal muscle atrophy (after long disease duration)

•

en:distal muscle weakness, lower limbs more severely affected than upper limbs

•

en:distal muscle atrophy due to peripheral neuropathy of upper and lower limbs

•

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

•

en:distal limb muscle weakness (less common)

•

en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs)

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:reduced subcutaneous fatty tissue

•

en:increased glycogen

•

en:sarcoplasmic or subsarcolemmal vacuoles in muscle fibers seen on muscle biopsy

•

en:muscle coenzyme q deficiency

•

en:myositis (in some patients)

•

en:myopathic pattern on emg

•

•

en:myofibromatosis affecting skin, muscle, bone, and viscera

•

en:myalgia with febrile episodes (rare)

•

en:muscular weakness, limb-girdle (patient a)

•

en:muscle weakness trunk

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle fatigability

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:nemaline rods (rare)

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle biopsy shows deficiency of mitochondrial respiratory enzymes i, iii, iv, and iv

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle atrophy, primarily in the legs

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mitochondrial myopathies

•

en:mitochondrial complex i deficiency

•

en:mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

•

en:minipolymyoclonus

•

en:myotonia is present in majority of cases

•

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

•

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

•

en:shortened acetylcholine receptor (achr)-induced ion channel opening

•

en:secondary loss of sarcolemmal caveolin-3

•

en:z-disk streaming

•

•

en:variation of myofiber diameter

•

en:variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

•

en:vacuolar degeneration

•

en:tibialis anterior muscle affected

•

en:swelling of the hands and feet, episodic

•

en:superficial rerouting of lymph through the skin

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:shoulder weakness

•

en:pyruvate oxidation defect

•

en:neurogenic changes

•

en:proximal muscle involvement may occur

•

en:proximal and distal muscle atrophy

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:prolonged endplate currents

•

en:progressive proximal muscle weakness

•

en:progressive interictal weakness is common

•

en:presynaptic defect at the neuromuscular junction

•

en:preserved heel standing

•

en:positive staining for atpase activity at ph of 4.3

•

en:peripheral edema

•

en:paracrystalline inclusions

•

en:mild weakness of the small hand muscles

•

en:severe form shows absence of spontaneous activity at birth

•

en:lymphangitis, episodic

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

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

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:decreased acetylcholine receptors (achr) at endplate junctional folds (less common)

•

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

•

en:chronic fatigable muscles

•

en:biopsy shows myopathy without vacuoles

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:attacks relieved by potassium administration

•

en:atrophic fibers seen on biopsy

•

en:angulated atrophic fibers

•

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

•

en:weakness of ankle plantar flexion

•

en:decreased muscle action potential after warming affected muscle

•

en:weakness of all intrinsic hand muscles (later)

•

en:upper limb muscle weakness may be more severe than lower limb weakness

•

en:tortuous lymphatic tracts

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:small atrophic fibers (in some patients)

•

en:skeletal muscle may show less severe mtdna deletion

•

en:skeletal muscle biopsy shows reducing bodies

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

en:severe disability within 20 years of onset

•

en:lower limb muscle weakness (in 2 of 3 families)

•

en:decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

•

en:thickened subcutaneous tissue

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:filamentous inclusions in muscle fibers

•

en:lipodystrophy

•

en:depletion of mitochondrial dna

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:limb-girdle myopathy

•

en:inguinal hernia

•

en:increased opening duration of acetylcholine receptor (achr)-induced ion channels

•

en:inclusion bodies seen on biopsy (in some patients)

•

•

en:hypothenar muscle atrophy

•

en:hypertonia in infancy

•

en:generalized muscle contractions, episodic

•

en:increased connective tissue

•

en:distal limb muscle atrophy, lower more than upper

•

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

•

en:fibromyalgia

•

en:difficulty walking

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:distal muscle weakness and atrophy

•

en:distal muscle atrophy due to neuropathy

•

en:edema of hands and feet (in some patients)

•

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

•

en:enlarged nuclei with central pallor

•

en:fibrillation

•

en:difficulty walking and climbing stairs (patient a)

•

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

•

en:progressive loss of facial adipose tissue

•

en:myopathy, mild to severe

•

en:no muscle weakness

•

en:no dystrophic changes

•

en:normal histopathology seen on muscle biopsy (in some patients)

•

en:nemaline rods (in some patients)

•

en:myopathy with abnormal lipid metabolism

•

en:lower limb muscle atrophy

•

en:muscle weakness and atrophy, distal

•

en:muscle pain with exercise (in older patients)

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle atrophy, proximal and distal (predominant lower limb involvement)

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:prolonged rise and decay of miniature endplate potentials (mepp)

•

en:lower limb muscle hypotrophy

•

en:prolonged achr channel opening episodes

•

en:waddling gait

•

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

•

en:uterine muscle may be stiff during pregnancy

•

en:abnormal distribution of subcutaneous fat

•

en:loose connective tissue

•

en:abnormal axons with sprouting and swelling

•

en:abdominal muscle hypoplasia

•

en:'hanging' big toe

•

en:winged scapula

•

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

•

en:weakness of the extensor muscles of the hands (initially)

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:rare necrotic fibers

•

en:thin musculature

•

en:superior rectus atrophy

•

en:soft tissue or tendinous calcinosis may occur

•

en:shoulder muscle weakness (in some patients)

•

en:shortening of various muscle-tendon groups in feet

•

en:scattered necrotic fibers

•

en:rhabdomyolysis with exercise (in older patients)

•

en:reduced muscle tone but normal power

•

en:loss of sarcomeric striations

•

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

•

en:lipoatrophy, generalized

•

en:biceps aplasia

•

en:decreased coenzyme q10

•

en:decreased activity of respiratory complex i+iii

•

en:decreased activity of mitochondrial complex i

•

en:decreased ability to run

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:cellulitis or infection may occur

•

en:carpopedal spasm

•

en:calf atrophy (later onset)

•

en:axial muscle hyperextension, episodic

•

en:decreased mitochondria

•

en:atrophic fibers

•

en:apoptotic nuclei

•

en:angular fibers (in some patients)

•

en:absence of some scapular muscles (less common)

•

en:abnormal z bands

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:abdominal wall muscle weakness (later onset)

•

en:arm/shoulder muscle hypoplasia

•

en:decreased complex i activity (rare)

•

en:decreased postsynaptic areas of clefts and folds seen on muscle biopsy

•

en:lipoatrophic appearance

•

en:hemihypertrophy of right arm and leg (rare)

•

en:limb-girdle muscular dystrophy

•

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:infantile axial hypotonia

•

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

•

en:inclusion body myopathy

•

en:hypertonicity of the lower limbs

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:hang weakness

•

en:distal muscle atrophy, upper and lower limbs, due to peripheral neuropathy mitochondrial complex iv deficiency

•

en:fiber-type grouping pattern

•

en:exercise intolerance (patient a)

•

en:episodic, nonerythematous, nonpruritic, nontender edema, episodic

•

en:enteroviral dermatomyositis syndrome

•

en:electrophysiologic studies show abnormal inactivation and delayed repolarization of the scn4a sodium channel

•

en:dystrophic changes occur later

•

en:distal muscle weakness due to peripheral neuropathy of upper and lower limbs

•

en:distal muscle weakness, predominantly lower limbs

•

en:abnormal irregular myofibrillar network

•

en:absence of necrosis

•

en:atrophy of shins

•

en:neurogenic abnormalities seen on emg

•

en:poor head control in infancy

•

en:phagocytic vacuoles with degraded membranous material

•

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

•

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

•

en:normal or increased facial and neck adipose tissue

•

en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy

•

en:nonspecific myopathic changes seen on biopsy

•

en:non-pitting edema

•

en:nemaline myopathy (in 1 reported male)

•

en:quadriceps atrophy

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:nemaline bodies

•

en:myopathy, nonprogressive

•

en:muscular appearance

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness (1 patient)

•

en:muscle weakness, proximal, limb-girdle

•

en:proximal muscle weakness, less severe

•

en:ragged-red muscle fibers

•

en:muscle biopsy shows neurogenic atrophy

•

en:type i fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation

•

en:atrophy of the small muscles in the hands and feet

•

en:myopathy, x-linked, with postural muscle atrophy (disorder)

•

en:weakness worsened by activity

•

en:weakness of anterior compartment tibial muscles

•

en:variation in skeletal muscle fiber diameter

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:usually no myopathic changes on biopsy

•

en:upper limb involvement may occur later

•

en:tubular aggregates (in some patients)

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:subcutaneous edema

•

•

en:small rounded fibers

•

en:shoulder girdle weakness

•

en:shoulder girdle muscle atrophy

•

en:shortening of various muscle-tendon groups in legs

•

en:secondary decrease of calpain-3 (capn3, 114240) protein expression in muscle

•

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

•

en:muscle weakness, predominantly proximal (in some patients)

•

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

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:decreased mitochondrial complex v activity

•

en:difficulty walking, running, climbing stairs

•

en:difficulty rising from a squatting position

•

en:denuded postsynaptic regions

•

en:delayed ambulation

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decrement of the compound muscle action potential on repetitive stimulation

•

en:decreased shank muscle mass

•

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

•

en:decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs)

•

en:decreased exercise tolerance

•

en:decreased coenzyme q10 content

•

en:decreased activity of complexes ii+iii

•

en:cox-negative fibers

•

en:congophilic deposits

•

en:cap structures, when present, contain disorganized myofibrils and thickened z bands

•

en:muscle activity is electrically silent on emg

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:distal limb muscle weakness and atrophy

•

en:decremental cmap response to repetitive nerve stimulation

•

en:distal lower limb muscle weakness

•

en:increased internal nuclei

•

en:mitochondrial paracrystalline inclusion bodies

•

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

•

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

•

en:macroglossia

•

en:low-amplitude compound muscle action potential (cmap)

•

en:interosseus muscles involved

•

en:internal nuclei seen on biopsy (in some patients)

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased internal nuclei in skeletal muscle fibers

•

en:mitochondrial dna deletion (1 patient)

•

en:increased falls

•

en:hangrip myotonia

•

en:increased connective tissue and fat

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

en:fiber-type predominance seen on muscle biopsy (in some patients)

•

en:histochemically normal type-ii muscle fibers

•

en:hypertonicity (uncommon)

•

en:hypotonia (2 patients)

•

en:multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy

•

en:muscle weakness following prolonged exercise

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:myofibromatosis

•

en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

•

en:muscle atrophy appears later in disease course

•

en:mild proximal muscle weakness (<10% of patients)

•

en:mri shows fatty infiltration of affected muscles

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

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

•

en:mildly increased mtdna

•

en:mallory-like bodies

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:lymphography shows hypoplasia of lymphatic vessels

•

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

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic changes seen muscle biopsy

•

en:swelling of the extremities, episodic

•

en:myopathy in approximately 45% of patients

•

en:relative sparing of the rectus femoris

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:smooth muscle may also become involved

•

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

•

en:skeletal myopathy

•

en:secondary loss of achr from junctional folds seen on muscle biopsy

•

en:rimmed vacuoles with basophilic granular material

•

en:respiratory distress (congenital form)

•

en:repetitive action potentials in response to single nerve stimulation

•

en:relatively preserved limb strength

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:reduced muscle strength (in some patients)

•

en:ragged red fibers seen on biopsy

•

en:proximal muscle weakness in lower limbs

•

en:prominent musculature

•

en:potassium sensitivity has been reported

•

en:poor muscle mass

•

en:neonatal edema (in some patients)

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:absence of immunostaining for alpha-dystroglycan (family a)

•

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

•

en:decreased adipose tissue around neck

•

en:difficulty walking, running

•

en:difficulty climbing stairs, jumping, running

•

en:degenerative features seen on muscle biopsy

•

en:degeneration of junctional folds

•

en:decreased postsynaptic length

•

en:decreased density of calcium release units

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased activity of mitochondrial complexes i and iv

•

en:distal muscle atrophy due to neurologic disease

•

en:decreased achilles reflex

•

en:congenital, nonprogressive myopathy

•

en:cervical muscle weakness

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:attacks last 4 to 24 hours

•

en:atrophy of type i fibers

•

en:tubular aggregates in muscle fibers may occur

•

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

•

en:distal muscle atrophy, lower legs

•

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

•

en:increased subcutaneous truncal adipose tissue

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:increased number of small endplates

•

en:increased lipid

•

en:increased endo- and perimysial connective tissue

•

en:hypotonia (families a and b)

•

en:hypotonia, axial, severe

•

en:hypoplasia of the hand muscles (29%)

•

en:hip flexor weakness

•

en:glycogen depletion in skeletal muscle

•

en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects

•

en:duchenne muscular dystrophy (dmd, 310200) in 'complex' form

•

en:fatty replacement in hip muscles and proximal muscles of the lower limb seen on mri

•

en:fatty degeneration of muscle seen on mri

•

en:facial diplegia

•

en:exercise intolerance (cvs+)

•

en:emg shows spontaneous, repetitive electrical activity ('myotonic runs')

•

en:emg shows increased insertion activity and fibrillation

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:electron microscopy showed z-disk streaming

•

en:easy fatigability

•

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

•

•

en:tubulofilamentous inclusions

•

en:muscle weakness (in 90% of patients)

•

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

•

en:pain or cramping during sustained manual activity

•

en:normal sensation

•

en:neuropathic or myopathic changes seen on emg

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:necrotic fibers

•

en:myopathy seen on emg

•

en:muscle weakness lower limb

•

en:muscle weakness, proximal, pelvic girdle (in severe cases)

•

en:prominent involvement of the biceps brachii muscles

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle stiffness (in older patients)

•

en:muscle mri shows fatty infiltration

•

en:muscle hypertrophy of the lower extremities

•

en:muscle hypertrophy in affected area

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle atrophy, severe

•

en:pena-shokeir syndrome type i

•

en:proximal limb muscle weakness (occurs later)

•

en:mtdna depletion seen on muscle biopsy

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:type 1 muscle fiber predominance

•

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

•

en:weakness of neck extensors (rare)

•

en:variable fiber size

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:type 2 muscle fiber atrophy

•

en:type 2 fiber hypertrophy

•

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

•

en:streaming of the z-disk seen on electron microscopy

•

en:proximal muscle weakness (in some patients)

•

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

•

en:shortened open channel duration

•

en:secondary myopathic changes

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (1 patient)

•

en:scapular muscle atrophy

•

en:sarcomere disappearance seen on muscle biopsy

•

en:ragged-red fibers on muscle biopsy

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness and atrophy (may occur later)

•

en:muscle, weakness, distal, hands and fingers (in some patients)

•

en:percussion-induced rapid rolling muscle contractions (pirc)

•

en:mri shows increased signal intensity in affected muscles consistent with fatty infiltration

•

en:deficiency of mitochondrial complexes i, iii, and iv

•

en:flaccid weakness or paralysis, episodic attacks

•

en:facial paresis

•

en:facial muscle atrophy of involved side

•

en:evidence of lymphatic rerouting

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:dystrophic changes on biopsy

•

en:distal muscle wasting, mild

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:decreased numbers of achr

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:decreased caveolae in muscle tissue

•

en:cores or minicores

•

en:a subset of patients develop bilateral weakness

•

•

en:absence of gamma-sarcoglycan protein

•

en:abnormal fat accumulation in the back (in some patients)

•

en:z-disk degeneration

•

en:mri shows fatty replacement

•

en:ubiquinone decreased

•

en:focal loss of cross- striations

•

en:distal muscle atrophy, predominantly lower limbs

•

en:generalized muscle weakness, severe

•

en:immunoreactivity for z-disk proteins

•

en:minicores (in some)

•

en:low muscle mass

•

en:loss of subcutaneous fat, diffuse

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:lipid storage, mainly in type i fibers

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased intraabdominal fat

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:inclusions are tdp43-immunoreactive

•

en:increased endomysial connective tissue around muscle fibers

•

en:hypotonia from birth to age 12

•

en:hypotonia (patient a)

•

en:hypotonia, neonatal (in some patients)

•

en:hand and foot weakness

•

en:haemorrhage subcutaneous

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

•

en:gluteal hypoplasia

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased immunostaining for succinate dehydrogenase (mitochondrial complex ii)

•

en:decreased distal reflexes

•

en:calf muscle hypoplasia

•

en:decreased activities of complexes i, iii, and iv, variable

•

en:cranial muscles spared

•

en:calf muscle enlargement

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle mass

•

en:emg may showed myotonic discharges

•

en:decreased postsynaptic achr

•

en:difficulty in toe walking

•

en:distal muscle atrophy (1 patient)

•

en:distal muscle weakness

•

en:distal muscle weakness, upper and lower limbs

•

en:dorsal and flexor muscles of the forearm are involved

•

en:edema reoccurs with infections

•

en:electromyogram normal

•

en:emg shows denervation

•

en:absence of telethonin protein

•

en:biopsy shows dystrophic changes

•

en:onset of lymphedema around puberty

•

en:absence of myotonia in infancy (congenital form)

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:emg shows myotonic changes

•

en:normal or increased truncal adipose tissue

•

en:primarily affects lower limbs

•

en:progressive proximal muscle involvement

•

en:proximal muscles may be mildly affected

•

en:proximal muscle weakness, lower limbs, slowly progressive (1 of 3 patients)

•

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

•

en:reduced activity of mitochondrial respiratory chains (1 family)

•

en:short and thickened z-discs

•

en:shoulder weakness and atrophy

•

en:absence of merosin in muscle

•

en:small endplate

•

en:some patients never achieve ambulation

•

en:stiffness (uncommon)

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

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

•

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

•

en:upper and/or lower limbs may be affected

•

en:upper limb involvement occurs later or not at all

•

en:emg shows fibrillations

•

en:upper limb muscle hypoplasia

•

en:exercise-induced weakness

•

en:proximal muscle weakness, mild

•

en:nemaline rod formation

•

en:no facial muscle involvement

•

en:no muscle fiber necrosis

•

en:no staining for periodic acid schiff (pas)

•

en:paralysis of the lower limbs (later)

•

en:polymyositis

•

en:poor musculature

•

en:primary myopathic changes seen on emg

•

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

•

en:proximal muscle weakness (120270.0002)

•

en:myotonia seen on emg

•

en:quadriceps muscle spared

•

en:repetitive response to single nerve stimulus

•

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

•

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

•

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

•

en:thick palmar fascia

•

en:type 1 fiber atrophy

•

en:muscular rigidity

•

•

en:myotonic discharges in the absence of clinical myotonia seen on emg

•

en:muscle weakness, proximal, distal, and axial, severe

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:lipid accumulation in muscle tissue

•

•

en:generalized muscle wasting

•

en:hematomas, recurrent large subcutaneous

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:inability to jump or squat

•

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

•

en:increased fatty infiltration

•

en:intranuclear inclusions (1 family)

•

en:leg cramps may occur with exercise

•

en:localized cellulitis

•

en:muscle shows lipid accumulation

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

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

•

en:mild muscular hypotonia

•

en:minimal muscle mass

•

en:muscle atrophy in the limbs

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle pain following exercise (in some patients)

•

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118909 • caches: c1=6 c2=1002 c3=1

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