Diko : en:vacuolar myopathy may occur

en:vacuolar myopathy may occur

Catégories

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Langue:anglais

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umls:C1868454

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1000

en:type 2 fiber predominance

•

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

•

en:muscle pain (less common)

•

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

•

en:disuse atrophy

•

en:internal nuclei seen on muscle biopsy

•

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

•

en:multi-core congenital myopathy

•

en:pectoralis major hypoplasia

•

en:quadriceps muscle spared

•

en:decreased cytochrome c oxidase (cox) activity and protein

•

en:decreased exercise tolerance

•

en:decreased quantal release

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:excessive neutral fat and free fatty acids in type-i fibers

•

en:extensive fatty infiltration on biopsy

•

en:hip girdle muscle atrophy

•

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

•

en:muscle biopsy shows myofibrillar changes

•

en:truncal hypotonia (family a)

•

en:accelerated decay of the synaptic current

•

en:decreased coenzyme q10 levels in muscle

•

en:myofibrillar disorganization

•

en:thick palmar fascia

•

en:emg shows fibrillation potentials

•

en:calf muscle hypoplasia

•

en:muscle weakness lower limb

•

en:myopathy, mild

•

en:centralized myonuclei

•

en:paracrystalline inclusions

•

en:muscle fiber necrosis

•

en:muscle biopsy shows no dystrophic changes

•

en:absence of necrosis

•

en:subsarcolemmal mitochondrial aggregates

•

en:increased centralized internal nuclei

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows mitochondrial aggregates

•

en:myopathic and neurogenic changes seen on emg

•

en:myopathic changes seen on emg of affected muscle

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:red-ragged fibers (2p21del)

•

en:decreased activity of respiratory complex i+iii

•

en:angular atrophic fibers

•

en:upper limb involvement may occur later

•

en:defects in mitochondria respiratory activities, mainly complexes i, ii, and iv

•

en:denervation seen on emg

•

en:inability to sit or hold head up

•

en:increased fibrosis (family a)

•

en:localized cellulitis

•

en:myotonia seen on emg

•

en:umbilical depression

•

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

•

en:weakness of neck extensors (rare)

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:fat pad anterior to malleolus

•

en:intracellular granular osmiophilic deposits

•

en:lipid and glycogen accumulation

•

en:signs of denervation seen on biopsy

•

en:lower limb atrophy

•

en:type 1 fiber predominance

•

en:eosinophilic inclusions

•

en:hypotonia, infantile, severe

•

en:z-disk streaming

•

en:proximal and distal muscle atrophy

•

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

•

en:autophagic rimmed vacuoles

•

en:chronic neurogenic changes seen on emg

•

en:edema of lower extremity

•

en:increased fatigability

•

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

•

en:muscle biopsy shows myopathic changes

•

en:muscle weakness, proximal and distal

•

en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy

•

en:small miniature endplate currents (mepc)

•

en:attacks of weakness

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:muscle atrophy (1 patient)

•

en:sparing of anterior tibialis muscle

•

en:cox-deficient fibers

•

en:muscle weakness, severe, proximal and distal

•

en:no rods

•

en:loss of ambulation (in some patients)

•

en:hypotonia (cvs+)

•

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

•

en:forearm muscle weakness

•

en:abnormal fat accumulation in axillae (in some patients)

•

en:degrading mitochondria

•

en:denervation of skeletal muscles

•

en:difficulty raising arms

•

en:mitochondrial swelling

•

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

•

en:muscle biopsy shows lipid deposition

•

en:muscle weakness, episodic

•

en:some patients become wheelchair-dependent

•

en:congenital myopathy (in one patient)

•

en:muscle weakness, lower limbs (patient a)

•

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

•

en:muscle weakness trunk

•

en:skeletal myopathy

•

en:amyotrophy, distal, upper and lower limbs

•

en:dystrophic features seen on muscle biopsy

•

en:proximal amyotrophy

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:increased central nucleation

•

en:central cores seen on muscle biopsy

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:decreased expression of the vdac1 protein

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv in muscle tissue

•

en:rhabdomyolysis (in some patients)

•

en:reduced muscle tone

•

en:muscle weakness and atrophy may be asymmetric

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:muscle hypertrophy in affected area

•

en:wide variation in fiber size

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:proximal muscles more often affected

•

en:muscle weakness, proximal and distal, affecting upper and lower limbs

•

en:pain or cramping during sustained manual activity

•

en:muscle cramps during exercise

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:increased fatty infiltration

•

en:aggregates contain granular electron-dense material

•

en:z-disk degeneration

•

en:muscle biopsy shows dystrophic features

•

en:amyotrophy of the upper limbs (in some patients)

•

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

•

en:decreased mitochondrial complex iv activity (in some patients)

•

en:emg shows chronic denervation

•

en:enteroviral dermatomyositis syndrome

•

en:muscle atrophy later in the disease

•

en:distal lower limb anterior compartment weakness

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle weakness, mainly proximal and axial

•

en:proximal lower limb muscle weakness, later (in some patients)

•

en:pelvic girdle weakness and atrophy

•

en:proximal muscle weakness (120270.0002)

•

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

•

en:decremental compound muscle action potential on repetitive stimulation

•

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

•

en:muscle wasting, progressive

•

en:increased endo- and perimysial connective tissue

•

en:muscle pain and cramps following exercise

•

en:muscle hypotonia

•

en:muscle fiber immaturity

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers

•

en:loss of subcutaneous fat, generalized

•

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

•

en:mtdna deletions seen on muscle biopsy

•

en:mitochondrial myopathy, severe

•

en:lower limb muscle atrophy

•

en:lipomas or lipomatous masses (most cases)

•

en:limb muscle weakness, proximal, upper and lower

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:increased muscle glycogen content

•

en:increased lipid

•

en:muscle weakness, proximal, lower limbs (upper limbs may become affected later)

•

en:muscle wasting in lower limbs

•

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

•

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

•

en:impaired heel-walking

•

en:shoulder girdle weakness

•

en:severe form shows absence of spontaneous activity at birth

•

en:secondary loss of merosin and desmin

•

en:rimmed vacuoles on biopsy

•

en:relative sparing of the tibialis anterior

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:pyruvate oxidation defect

•

en:prolonged endplate potentials

•

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

•

en:predominantly lower limb lymphedema

•

en:muscle weakness, variable

•

en:postexercise cmap amplitude facilitation

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

•

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

•

en:nonspecific myopathic changes seen on biopsy (in some patients)

•

en:neurogenic atrophy seen on muscle biopsy

•

en:neck flexor weakness

•

en:myopathic changes seen on emg

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness (in some patients)

•

en:muscle weakness (affecting lower proximal extremities, abdominal wall, and iliopsoas muscle)

•

en:increased connective tissue and fat in muscles

•

en:edema of dorsum of hands and feet

•

en:hypotonia (1 patient)

•

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

•

en:decreased achilles reflex

•

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

•

en:congenital fiber type disproportion

•

en:cervical muscle weakness

•

en:calf muscle discomfort

•

en:biopsy muscle normal

•

en:axial weakness

•

en:autophagic vacuoles seen on biopsy (in some patients)

•

en:attacks usually decrease or disappear after age 40 years

•

en:atrophy, neurogenic muscular

•

en:decreased lipoic acid

•

en:atrophic

•

en:ankle clonus

•

en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet

•

en:acquired partial lipodystrophy

•

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

•

en:abnormal mitochondrial proliferation

•

en:abnormal iron deposition in mitochondria

•

en:abnormal fatigue

•

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

•

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

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:hypotonia, mild

•

en:exercise intolerance (patient a)

•

en:hypoplasia of the hand muscles (29%)

•

en:hypoplasia of cervical paravertebral muscles

•

en:hyaline plaques with absent oxidative activity

•

en:hemihypertrophy of right arm and leg (rare)

•

en:grip strength decreased

•

en:glycogen accumulation seen on biopsy

•

en:gait, drop foot

•

en:foot-drop

•

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

•

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

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:dystrophic changes occur later

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:dysphonia

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

•

en:distal muscle weakness, occurs initially

•

en:distal muscle atrophy due to peripheral neuropathy

•

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

•

en:distal limb muscle atrophy (less common)

•

en:difficulty running and jumping

•

en:skeletal muscle damage

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:skeletal muscle weakness

•

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

•

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

•

en:myopathic changes on pathology

•

en:muscle weakness increases with age

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, particularly of the lower limbs

•

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

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows glycogen storage

•

en:neonatal hypertonias

•

en:muscle atrophy, mild

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:mitochondrial myopathies

•

en:macroglossia

•

en:low muscle mass

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:large hypertrophied fibers

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:increased visceral fat

•

en:nemaline myopathy (in 1 reported male)

•

en:neurogenic changes

•

en:increased muscle tone (early in life)

•

en:pseudohypertrophy of muscle

•

en:variable fiber size

•

en:subcutaneous lipomatous tissue

•

en:variability in fiber size

•

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

•

en:spasm

•

en:scapuloperoneal muscular atrophy due to denervation

•

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

•

en:repetitive response to single nerve stimulation

•

en:relatively preserved limb strength

•

en:proximal muscle weakness occurs later

•

en:normal lamp2 staining (309060)

•

en:proximal muscle weakness in upper limbs

•

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

•

en:progressive muscle weakness

•

en:primary myopathic changes seen on emg

•

en:poor head control in infancy

•

en:pena-shokeir syndrome type i

•

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

•

en:painful swelling in aponeuroses

•

en:normal or increased facial and neck adipose tissue

•

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

•

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

•

en:imaging shows muscle atrophy and fatty replacement

•

en:absence of merosin in muscle

•

en:decreased postsynaptic achr

•

en:decreased muscle action potential after warming affected muscle

•

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

•

en:decreased caveolae in muscle tissue

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:cranial muscles spared

•

en:benign soft tissue developmental anomalies

•

en:attacks precipitated by cold temperature

•

en:asymmetric muscle involvement

•

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

•

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

•

en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:walking may be limited

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:vacuolar myopathy

•

en:upper limb muscle hypoplasia

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:hypotonia (2 patients)

•

en:type 2 muscle fiber atrophy

•

en:type 1 fiber atrophy

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:chronic weakness

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

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

•

en:hypotonia, generalized, severe

•

en:hyporeflexia

•

en:hypotonia, truncal and appendicular

•

en:hernia

•

en:generalized limb muscle atrophy

•

en:frontalis muscle weakness

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:exercise-induced muscle cramps

•

en:emg shows high-frequency spontaneous discharges

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:emg may showed myotonic discharges

•

en:distal muscle atrophy due to neuropathy

•

en:distal atrophy of the legs

•

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

•

en:difficulty rising from a squatting position

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:difficulty walking

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:distal limb muscle weakness and atrophy

•

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

•

en:muscular weakness, improving in infancy (medical research council muscle score of 3 to 4)

•

en:muscular hypotonia of the trunk

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle weakness begins proximally

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness, mild, proximal and distal

•

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

•

en:muscle weakness, congenital

•

en:mitochondrial proliferation

•

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

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

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

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscles become hard and tender during exercise

•

en:marked variability of fiber size

•

en:myopathic changes seen muscle biopsy

•

en:mild distal muscle atrophy

•

en:myogenic profile on electromyography

•

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

•

en:myotonia is usually not seen

•

en:shortening of various muscle-tendon groups in legs

•

en:lymphography shows hypoplasia of lymphatic vessels

•

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

•

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

•

en:tubular aggregates (in some patients)

•

en:thenar eminence hypoplasia

•

en:subcutaneous edema

•

en:spheroid bodies are composed of fine filamentous (myofibrillar) material

•

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

•

en:sparing of small hand and finger muscles

•

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

•

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

•

en:necrotic and regenerating fibers

•

en:replacement of myofibers with connective tissue

•

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

•

en:recovery between attacks

•

en:proximal muscles may be mildly affected

•

en:progressive distal and proximal symmetric limb weakness

•

en:poor sarcomeric structure (in some patients)

•

en:pharyngeal muscle weakness

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:pelvic girdle weakness

•

en:neonatal edema (in some patients)

•

en:marked lack of adipose tissue

•

en:absence of collagen vi immunostaining

•

en:lymphedema, hands (rare)

•

en:congophilic eosinophilic inclusions

•

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

•

en:difficulty walking, running

•

en:deltoid muscle hypoplasia

•

en:decreased secondary clefts

•

en:decreased cytochrome c oxidase activity

•

en:decreased activities of mitochondrial complexes i, ii, and iii

•

en:decreased achr at the endplate

•

en:decreased ability to run

•

en:contractures of upper limbs (in some patients)

•

en:congenital, nonprogressive myopathy

•

en:disruption in the basal lamina seen on skeletal muscle biopsy

•

en:calcific tendinitis

•

en:biopsy shows myopathic and dystrophic changes

•

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

•

en:atrophic fibers

•

en:areflexia of lower limbs

•

en:ankle reflex absent

•

en:absence of some scapular muscles (less common)

•

en:abnormal mitochondria

•

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

•

en:abnormalities in myofibril organization

•

en:disorganization of the neuromuscular junction

•

en:disruption plasma membrane (in some patients)

•

en:lymphangiectasia

•

en:gluteus maximus and thigh adductors most affected

•

en:loss of independent ambulation around age 12 years

•

en:loose connective tissue

•

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

•

en:lack of facial subcutaneous fat

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:increased mitochondria with abnormal cristae

•

en:increased internal nuclei seen on muscle biopsy

•

en:increased glycogen

•

en:hypertonia at birth

•

en:glycogen depletion in skeletal muscle

•

en:gastrocnemius and soleus muscles most affected

•

en:distal amyotrophy (hands and feet)

•

en:foot extensor muscle weakness (later onset)

•

en:focal loss of cross striations seen on muscle biopsy

•

en:floppy infant syndrome

•

en:fibrillations in affected muscles

•

en:fasciculations (less common)

•

en:facial muscle weakness and atrophy, progressive

•

en:exercise-induced myalgia

•

en:enlarged mitochondria

•

en:emg shows neurogenic changes

•

en:distal muscle weakness may occur

•

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

•

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

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:muscle weakness, limb-girdle (lower and upper limbs may be affected)

•

en:nemaline rod formation

•

en:myopathy (rare)

•

en:myofibrillar disintegration

•

en:myalgia, episodic

•

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

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness (1 patient)

•

en:muscle weakness, upper and lower limbs

•

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

•

en:muscle weakness, distal, particularly affecting the hands

•

en:normal sensation

•

en:muscle pain and cramping on exertion

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows endplate myopathy (see details under neurologic heading)

•

en:muscle biopsy shows dystrophic features (later in disease course)

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy in the limbs

•

en:mitochondrial dna deletion (1 patient)

•

en:mitochondrial complex i deficiency

•

en:mild muscular hypotonia

•

en:nonspecific myopathy seen on biopsy

•

en:no staining for periodic acid schiff (pas)

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:smooth muscle may also become involved

•

en:absence of caveolin-3 staining

•

en:z-disks with abnormal homogeneous material

•

en:weakness worsened by activity

•

en:weakness of anterior compartment tibial muscles

•

en:tubular aggregates mainly in type 1 fibers

•

en:tremor of the upper limb

•

en:thigh hypertrophy

•

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

•

en:thickened subcutaneous tissue

•

en:swelling of the extremities, episodic

•

en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk

•

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

•

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

•

en:skeletal muscle biopsy shows reducing bodies

•

en:rare necrotic fibers

•

en:quadriceps aplasia

•

en:prominent veins, lower limbs

•

en:prominent involvement of the biceps brachii muscles

•

en:presynaptic defect at the neuromuscular junction

•

en:preserved heel standing

•

en:premature exertional muscle weakness

•

en:phagocytic vacuoles with degraded membranous material

•

en:lymphangitis, episodic

•

en:non-pitting edema

•

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

•

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

•

en:emg consistent with chronic neurogenic disorder

•

en:easy bruisability of lower extremities

•

en:dorsal and flexor muscles of the forearm are involved

•

en:distal muscle weakness, mild

•

en:distal amyotrophy

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:disorganized myofilaments seen on muscle biopsy

•

en:difficulty walking, running, climbing stairs

•

en:degenerative changes with increased connective tissue

•

en:degenerating nerve terminals

•

en:decreased activity of respiratory complex ii+iii

•

en:exercise-induced muscle stiffness

•

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

•

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

•

en:congenital absence of gluteal muscles

•

en:chronic fatigable muscles

•

en:calf muscle weakness

•

en:calf hypertrophy (uncommon)

•

en:angulated fibers

•

en:amyotrophy of the lower limbs (in some patients)

•

en:increased variation in fiber size seen on muscle biopsy

•

en:absence of myotonia in infancy (congenital form)

•

en:evidence of lymphatic rerouting

•

en:amorphous granulofilamentous material associated with z-discs

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:hypoplasia of infraspinatus muscle

•

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

•

en:fatty replacement

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased adipose fibrosis

•

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

•

en:inclusions are tdp43-immunoreactive

•

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

•

en:impaired mitochondrial respiration

•

en:immunoreactivity for z-disk proteins

•

en:hypotonia (in some patients)

•

en:increased internal nuclei in skeletal muscle fibers

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:hip abductor weakness and atrophy

•

en:fiber type variation

•

en:fibrillation

•

en:fiber necrosis

•

en:gait abnormalities (occurs later)

•

en:generalized amyoplasia

•

en:giant granules in muscle cells

•

en:hamstring muscle affected

•

en:hand and foot weakness

•

en:myopathic pattern seen on emg

•

en:normal mitochondrial morphology (1 patient)

•

en:muscles have a woody consistency on palpation

•

en:nemaline bodies are rarely intranuclear

•

en:necrotic changes (finding)

•

en:myotonic discharges

•

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

•

en:myotonia

•

en:myopathy (in some patients)

•

en:normal or increased truncal adipose tissue

•

en:muscle pain with exercise (in older patients)

•

en:myoclonic spasms

•

en:muscular dystrophy with variable age of onset (infancy to young adult)

•

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

•

en:muscle wasting (especially legs and arms)

•

en:muscle hematoma

•

en:muscle cramps at rest

•

en:muscle biopsy shows multiple mitochondrial dna (mtdna) deletions

•

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

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle amyotrophy

•

en:no ragged-red fibers

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:shortened open channel duration

•

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

•

en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)

•

en:mitochondrial dna deletions (in some patients)

•

en:atrophic muscle fiber on biopsy

•

en:anasarca

•

en:acetazolamide may worsen symptoms

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:abnormal muscle tone

•

en:abnormal jitter seen on emg

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

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

•

en:small rounded fibers

•

en:poor head control

•

en:shoulder muscle weakness

•

en:severely decreased or absent lamp2 protein

•

en:rigidity (uncommon)

•

en:rhabdomyolysis, episodic

•

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

•

en:redundancy of basal lamina with accumulated debris

•

en:reduced subcutaneous adipose tissue

•

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

•

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

•

en:progressive loss of facial adipose tissue

•

en:mri shows increased connective tissue and fat

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:mildly decreased cytochrome c oxidase activity

•

en:centrally located nuclei seen on muscle biopsy

•

en:distal leg muscle atrophy

•

en:difficulty standing

•

en:difficulty rising from chair

•

en:decreased thiamine pyrophosphate

•

en:decreased muscle mass (especially of limbs)

•

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

•

en:decreased adipose tissue around neck

•

en:decreased activities of complexes i and iv

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:congophilic staining

•

en:calf hypertrophy (in some patients)

•

en:distal lower limb muscle weakness and atrophy

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers or in vacuoles

•

en:atrophy of the intrinsic foot and hand muscles

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:angioedema

•

en:amyotrophy affects c5 to t1 myotomes

•

en:accumulation of pas-positive polyglucosan material seen on muscle biopsy

•

en:abnormal z bands

•

en:abnormal fiber size variation

•

en:biopsy shows myopathy without vacuoles

•

en:distal limb muscular weakness due to peripheral neuropathy

•

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

•

en:loss of sarcomeric striations

•

en:hypotonia (45%)

•

en:loss of facial adipose tissue

•

en:lipohypoplasia, regional

•

en:limb weakness and atrophy

•

en:limb-girdle muscular dystrophy

•

en:infantile axial hypotonia

•

en:increased variability in muscle fiber diameter

•

en:increased subcutaneous truncal adipose tissue

•

en:increased perisarcolemmal calcium deposition

•

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

•

en:increased connective tissue (in some patients)

•

en:hyporeflexia or areflexia

•

en:dystrophic features

•

en:hypertonia late

•

en:gowers sign present

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:gait abnormality

•

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

•

en:fatty degeneration of muscle seen on mri

•

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

•

en:emg shows myopathic or neurogenic changes

•

en:emg may show myopathic features

•

en:edematous hands and feet (1 patient)

•

en:atrophy of type 1 and type 2 fibers

•

en:degenerative features seen on muscle biopsy

•

en:buffalo hump (rare)

•

en:myopathic pattern seen on emg (in some patients)

•

en:progression to wheelchair in fourth decade

•

en:positive staining for atpase activity at ph of 4.3

•

en:plantar fibromatosis

•

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

•

en:normal or increased adipose tissue around the neck

•

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

•

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

•

en:necrotic fibers

•

en:neck and proximal limb muscle myopathy

•

en:myositis (in some patients)

•

en:myopathic pattern on emg

•

en:prominent muscular appearance

•

en:myopathic features seen on emg

•

en:myofibril destruction (in some patients)

•

en:myofibrillar lesions

•

en:muscular stiffness

•

en:muscular fasciculation

•

en:muscle weakness, distal (in some patients)

•

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

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows fiber type disproportion

•

en:progressive interictal weakness is common

•

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

•

en:muscle biopsy may show inflammatory changes

•

en:triceps weakness

•

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

•

en:weakness and wasting of the lower limbs

•

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

•

en:walking delay

•

en:variation in skeletal muscle fiber diameter

•

en:uterine muscle may be stiff during pregnancy

•

en:usually a unilateral disorder

•

en:upper limb involvement occurs later or not at all

•

en:tubulofilamentous inclusions

•

en:trunk muscle atrophy

•

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

•

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

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:soft tissue or tendinous calcinosis may occur

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:short and thickened z-discs

•

en:secondary myopathic features

•

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

•

en:rhabdomyolysis, episodic and recurrent

•

en:repetitive action potentials in response to single nerve stimulation

•

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

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:thin musculature

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:difficulty walking up stairs

•

en:emg may show neurogenic changes

•

en:electromyography shows myotonic discharges

•

en:edema reoccurs with infections

•

en:dystrophic changes on biopsy

•

en:dysarthria

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness of the upper limbs (in some patients)

•

en:distal muscle weakness due to neuropathy

•

en:distal muscle weakness, lower legs

•

en:distal muscle atrophy (1 patient)

•

en:difficulty running

•

en:exercise intolerance (less common)

•

en:denervation

•

en:decreased mitochondrial complex v activity

•

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

•

en:decreased coenzyme q10 content

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

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

•

en:cox-negative fibers

•

en:chronic denervation seen on emg

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:cellulitis in lower limbs, recurrent

•

en:facial edema

•

en:levator palpebrae superioris atrophy

•

en:muscle activity is electrically silent on emg

•

en:filamentous inclusions in muscle fibers

•

en:mri of the thighs shows fatty atrophy with preservation of the biceps femoris in the lateral compartment

•

en:mitochondrial respiratory chain complex i, ii, and iii defect

•

en:mild variability in muscle fiber size

•

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

•

en:lymphedema of lower limbs (in some patients)

•

en:loss of adipose tissue occurs around puberty

•

en:loss of ability to walk in early childhood

•

en:lipodystrophy (in some patients)

•

en:lipoatrophy

•

en:mildly decreased laminin alpha-2 expression (lama2, 156225)

•

en:gluteal hypoplasia

•

en:lack of antigravity movements (patient b)

•

en:intranuclear inclusions (1 family)

•

en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased muscle tone in the lower limbs

•

en:increased fiber size variability

•

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

•

en:generalized hypotonia

•

en:generalized neonatal hypotonia

•

en:focal areas of z-band disarray devoid of mitochondria seen on electron microscopy

•

en:muscle biopsy shows enlargement of type i muscle fibers, consistent with denervation

•

en:muscle biopsy shows fiber type variation (in some patients)

•

en:limb hypertonia

•

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

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle cramp

•

en:muscle biopsy shows dystrophic pattern

•

en:lymphedema of lower extremity

•

en:muscle atrophy, progressive

•

en:mri shows fatty infiltration of affected muscles

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mildly increased mtdna

•

en:loss of subcutaneous fat

•

en:loss of ambulation between third and sixth decade

•

en:lipoatrophy, generalized

•

en:muscle stiffness or aching

•

en:muscle hypertrophy may occur

•

en:prominent involvement of the quadriceps femoris muscles

•

en:muscle weakness, mainly proximal

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:subsarcolemmal accumulation of normal mitochondria (in some patients)

•

en:small nerve terminals

•

en:slim, muscular build (in some patients)

•

en:shoulder girdle muscle atrophy

•

en:scapular muscle atrophy

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:proximal myopathy

•

en:poor muscle build

•

en:muscle weakness after cooling or on warming affected muscle

•

en:percussion myotonias

•

en:pelvic muscle involvement occurs later

•

en:patients achieve independent ambulation, but may lose it

•

en:no dystrophic changes

•

en:neurogenic changes seen on emg and biopsy

•

en:neurogenic atrophy

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness is predominantly of extremities and tongue

•

en:large lipid droplets

•

en:generalized muscle hypertrophy

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:cellulitis due to immunodeficiency

•

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

•

en:decreased muscle mass, especially distally

•

en:decreased muscle bulk

•

en:decreased mtdna

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased activities of mitochondrial respiratory complexes i and iii seen on skeletal muscle biopsy

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:carpopedal spasm

•

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

•

en:calf hypertrophy (reported in 1 family)

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:absence of subcutaneous fat over entire body except buttocks, hips, and thighs

•

en:absence of muscle pseudohypertrophy

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal mitochondria with loss of cristae

•

en:swelling of the hands and feet, episodic

•

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

•

en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:generalized weakness (adult-onset)

•

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

•

en:increased fatty and connective tissue in skeletal muscle

•

en:inclusion body myopathy

•

en:hypotrophy of type 1 fibers

•

en:hypotonia, severe (patient b)

•

en:hypotonia, severe, neonatal

•

en:group fiber atrophy (in some patients)

•

en:generalized muscular appearance from birth

•

en:difficulty climbing stairs, jumping, running

•

en:generalized muscle weakness

•

en:fatty infiltration seen on muscle biopsy

•

en:emg shows increased insertion activity and fibrillation

•

en:edema at birth

•

en:edema, generalized

•

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

•

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

•

en:distal muscles may be affected

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:swelling of the affected areas

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:multiple mitochondrial dna (mtdna) deletions (in most cases)

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle hypertrophy

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows groups of small angulated fibers consistent with denervation

•

en:muscle atrophy, primarily in the legs

•

en:multiple mitochondrial dna deletions

•

en:mitochondrial paracrystalline inclusion bodies

•

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

•

en:minipolymyoclonus

•

en:minicores or core-like regions may be present

•

en:mild endplate myopathy

•

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

•

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

•

en:loss of subcutaneous fat, diffuse

•

en:loss of antigravity strength

•

en:muscle weakness is not a feature

•

en:myalgia with febrile episodes (rare)

•

en:infantile muscular hypotonia

•

en:skeletal muscle shows dystrophic changes

•

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

•

en:weakness

•

en:vacuoles are autophagocytic

•

en:unable to walk

•

en:ubiquinone decreased

•

en:tortuous lymphatic tracts

•

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

•

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

•

en:myotonia is present in majority of cases

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

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

•

en:reduced muscle bulk

•

en:proximal lower limb amyotrophy

•

en:positive staining for slow myosin heavy chain

•

en:no facial muscle involvement

•

en:normal muscle fiber (hcs)

•

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

•

en:involves upper and lower proximal muscles

•

en:paralysis of the lower limbs (later)

•

en:independent walking may not be achieved

•

en:atrophy of upper girdle muscles

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:decreased activity of mitochondrial complex iii

•

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

•

en:decreased activity of complexes ii+iii

•

en:cytoplasmic inclusion bodies (finding)

•

en:casq1-immunopositive inclusions

•

en:axial muscle weakness

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:degenerating junctional folds

•

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

•

en:abdominal muscle hypoplasia

•

en:'hanging' big toe

•

en:waddling gait

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:increased connective tissue and fat

•

en:umbilical cord bleeding

•

en:decreased shank muscle mass

•

en:atrophic fibers seen on biopsy

•

en:depletion of mitochondrial dna

•

en:facial muscle atrophy of involved side

•

en:inability to jump or squat

•

en:deposits immunoreactive to beta-amyloid protein

•

en:hypotonia, profound

•

en:hypotonia, neonatal (in some patients)

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:fiber size variation (in some patients)

•

en:fatty infiltration of affected muscles

•

en:generalized muscle contractions, episodic

•

en:enlarged nuclei with central pallor

•

en:electromyogram normal

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:endomysial fibrosis

•

en:increased connective tissue

•

en:emg - repetitive muscle discharges

•

en:emg shows myotonic changes

•

en:emg shows reduction of voluntary recruitment

•

en:decreased hand grip strength

•

en:fat pads on the hands and feet

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased or absent ankle reflexes

•

en:decreased postsynaptic folding at the neuromuscular junction

•

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

•

en:decreased muscle mass

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:emg shows fibrillations

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

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

•

en:hypertonia in infancy

•

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

•

en:fibromyalgia

•

en:focal loss of cross- striations

•

en:gait unsteady

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:histochemically normal type-ii muscle fibers

•

en:hyaline inclusion

•

en:hypoactive gag reflex

•

en:hypotonic

•

en:increased fatigue

•

en:decreased cytochrome c oxidase staining

•

en:increased intraabdominal fat

•

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

•

en:muscle soft, tissue

•

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

•

en:abnormal mitochondrial morphology

•

en:internal nuclei

•

en:tibialis anterior muscle affected

•

en:umbilical hernia

•

en:weakness of neck muscles may occur later

•

en:widening of the synaptic cleft

•

en:z-band streaming

•

en:z-line streaming see on electron microscopy

•

en:abnormal axons with sprouting and swelling

•

en:abnormal distribution of subcutaneous fat

•

en:abnormal irregular myofibrillar network

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:cytochrome-c oxidase deficiency

•

en:absence of pectoralis minor muscle

•

en:ankle edema (finding)

•

en:anterior tibial muscles first involved

•

en:atrophic calf muscles

•

en:attacks may present during or after sleep

•

en:calcific tendinopathy, early-onset (in some patients)

•

en:calf hypertrophy (less common)

•

en:calf muscle enlargement

•

en:central nuclei

•

en:congophilic deposits

•

en:contractures of distal lower limbs

•

en:increased lipid droplets and abnormal mitochondria

•

en:reduced muscle strength (in some patients)

•

en:limb weakness, proximal followed by distal

•

en:reduced postsynaptic cleft area

•

en:no myofibrillar abnormalities or protein aggregation

•

en:painful adipose tissue

•

en:polymyositis

•

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

•

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

•

en:proximal muscle involvement may occur

•

en:proximal muscle weakness, mild

•

en:proximal muscle weakness (in some patients)

•

en:rectus abdominis muscle separation

•

en:rectus medial atrophy

•

en:scattered necrotic fibers

•

en:normal phosphorylase kinase activity in muscle

•

en:severe muscular hypotonia

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:superior rectus atrophy

•

en:tendinous and tuberous xanthoma

•

en:thenar amyotrophy (rare)

•

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

•

en:type ii fiber predominance

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:vacuoles predominantly in type 2 fibers seen on muscle biopsy

•

en:fasciculation

•

en:congenital fiber-type disproportion

•

en:no muscle fiber necrosis

•

en:normal dystrophin immunostaining

•

en:lipoma

•

en:muscle biopsy shows myofibrillar myopathy

•

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

•

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

•

en:merosin-positive biopsy

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:minicores (in some)

•

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

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:motor clumsiness

•

en:multiple rimmed vacuoles seen on biopsy (in some patients)

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle coenzyme q deficiency

•

en:nonspecific myopathic changes seen on biopsy

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle hyperirritability

•

en:muscle paralysis, episodic

•

en:muscle strength and bulk is preserved

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness (cvs+)

•

en:muscle weakness and atrophy

•

en:myokymia

•

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

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:nemaline rods (rare)

•

en:tetany

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7120596 • caches: c1=54 c2=1825 c3=658

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