Diko : en:secondary loss of merosin and desmin

en:secondary loss of merosin and desmin

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C4014046

Associations d'idées

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1000

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

•

en:increased fatty infiltration

•

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

•

en:abnormal mitochondria

•

en:cytoplasmic inclusion bodies (finding)

•

en:decreased coenzyme q10 content

•

en:dystrophic features seen on muscle biopsy

•

en:exercise-induced muscle fatigue

•

en:increased central nucleation

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:increased staining for myotilin, dystrophin, desmin

•

en:short and thickened z-discs

•

en:lipomas or lipomatous masses (most cases)

•

en:tetanus-like muscle contractions

•

en:some patients never achieve ambulation

•

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

•

en:proximal weakness

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows fiber type disproportion

•

en:neck and proximal limb muscle myopathy

•

en:calf hypertrophy (early in the disease)

•

en:decreased cytochrome c oxidase staining

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

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

•

en:enlarged mitochondria

•

en:generalized neonatal hypotonia

•

en:loose connective tissue

•

en:myopathy (in some patients)

•

en:muscle atrophy, severe

•

en:recovery between attacks

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:proximal upper limb amyotrophy

•

en:muscle weakness (type i)

•

en:velopharyngeal muscle weakness

•

en:muscle fiber splitting (in some patients)

•

en:lymphedema of the hands (in some patients)

•

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

•

en:difficulty walking, running

•

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

•

en:disorganization of the neuromuscular junction

•

en:chronic denervation seen on emg

•

en:fibrillations in affected muscles

•

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

•

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

•

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

•

en:cox-depleted fibers

•

en:distal limb muscle atrophy (less common)

•

en:emg shows neurogenic changes consistent with denervation

•

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

•

en:small or absent axon terminals

•

en:some subcutaneous adipose tissue may remain on upper arms

•

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

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle cramps during exercise

•

en:muscle weakness, hypokalemia-related

•

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

•

en:absence of merosin in muscle

•

en:distal muscle atrophy due to neuropathy

•

en:distal muscle weakness and atrophy, upper and lower limbs

•

en:generalized muscle weakness, proximal and distal

•

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

•

en:muscle weakness, lower limbs, during exercise

•

en:upper and/or lower limbs may be affected

•

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

•

en:decreased numbers of type 2b fibers

•

en:distal muscles may be affected

•

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

•

en:easily fatigued (finding)

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:panniculitis

•

en:walking delay

•

en:autophagosome

•

en:muscle fiber splitting

•

en:combined mitochondrial respiratory chain deficiency (in most patients)

•

en:loss of independent ambulation around age 12 years

•

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

•

en:muscle cramps may affect jaw muscles

•

en:muscle fiber necrosis

•

en:ankle clonus

•

en:type 1 muscle fiber predominance

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:muscle fatigability

•

en:presynaptic defect at the neuromuscular junction

•

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

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

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

•

en:abnormal axons with sprouting and swelling

•

en:attacks precipitated by potassium

•

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

•

en:leg cramps may occur with exercise

•

en:muscle atrophy, primarily in the legs

•

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

•

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

•

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

•

en:uterine muscle may be stiff during pregnancy

•

en:attacks precipitated by rest after exercise

•

en:attacks usually decrease or disappear after age 40 years

•

en:filamentous inclusions in muscle fibers

•

en:low maximum workload on exercise testing

•

en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients)

•

en:subsarcolemmal mitochondrial accumulation

•

en:proximal muscle weakness

•

en:decreased achilles reflex

•

en:hamstring muscle affected

•

en:hypoplasia of latissimus dorsi muscle

•

en:muscle weakness lower limb

•

en:myotonia is most pronounced in the extremities

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:decreased mtdna

•

en:facial muscle atrophy of involved side

•

en:replacement of myofibers with connective tissue

•

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

•

en:weakness of ankle plantar flexion

•

en:abnormal aggregation of mitochondria

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:heterotopic bone formation in subcutaneous fat

•

en:increased endomysial connective tissue around muscle fibers

•

en:levator palpebrae superioris atrophy

•

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

•

en:muscle biopsy may show mild kinetic abnormalities of the achr

•

en:hand and foot weakness

•

en:atrophic muscle fiber on biopsy

•

en:emg shows myotonic discharges in the absence of clinical myotonia

•

en:immunoreactivity for z-disk proteins

•

en:motor developmental delay

•

en:muscle atrophy, mild, more proximal than distal

•

en:secondary loss of sarcolemmal caveolin-3

•

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

•

en:distal muscle weakness, mild

•

en:muscle wasting, severe, primarily in the legs

•

en:myosin storage myopathy (in some patients)

•

en:myopathic and neurogenic changes seen on emg

•

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

•

en:muscle weakness increases with age

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness, severe

•

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

•

en:muscle biopsy shows necrotic and regenerating fibers

•

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

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows atrophy

•

en:mri shows fatty replacement

•

en:mild variability in muscle fiber size

•

en:mild distal muscle atrophy

•

en:normal or increased truncal adipose tissue

•

en:non-pitting edema

•

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

•

en:no muscle fiber necrosis

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:variability in fiber size

•

en:usually a unilateral disorder

•

en:umbilical hernia

•

en:tubular aggregates (in some patients)

•

en:toe-walking gait

•

en:superior rectus atrophy

•

en:subcutaneous lipomatous tissue

•

en:lipoatrophy of trunk

•

en:pain or cramping during sustained manual activity

•

en:secondary hypertrophy

•

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

•

en:relatively preserved limb strength

•

en:quadriceps atrophy

•

en:progression to proximal muscle weakness

•

en:poor muscle mass

•

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

•

en:patients achieve independent ambulation, but may lose it

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:fatty infiltration

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:amorphous granulofilamentous material associated with z-discs

•

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

•

en:attacks relieved by potassium administration

•

en:atrophy of shins

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophic calf muscles

•

en:angulated fibers

•

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

•

en:absence of telethonin protein

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:absence of gamma-sarcoglycan protein

•

en:abnormal subcutaneous fat tissue distribution

•

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

•

en:abnormal mitochondria with loss of cristae

•

en:abdominal wall muscle weakness (later onset)

•

en:'sloping' shoulders due to muscle atrophy

•

en:z-disks with abnormal homogeneous material

•

en:calf hypertrophy (uncommon)

•

en:decreased mitochondrial complex v activity

•

en:increased numbers of type 1 fibers

•

en:fiber size variation seen on muscle biopsy

•

en:increased muscle tone (early in life)

•

en:increased internal nuclei

•

en:increased echo intensity in affected muscles

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:hypoglycosylation of alpha-dystroglycan

•

en:humeroperoneal weakness and atrophy

•

en:gait unsteady

•

en:facial muscle weakness

•

en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

•

en:emg shows chronic denervation

•

en:electromyogram normal

•

en:edema of dorsum of hands and feet

•

en:dysphonia

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:disorganization of the myofibrillar pattern

•

en:difficulty walking, running, climbing stairs

•

en:delayed ambulation

•

en:weakness of neck extensors (rare)

•

en:decreased activity of respiratory complex ii+iii

•

en:muscle soft, tissue

•

en:nemaline bodies occur in type 1 fibers

•

en:patchy muscle fiber degeneration

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:normal muscle fiber (hcs)

•

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

•

en:nonspecific myopathic changes

•

en:nemaline rods (rare)

•

en:necrotic process

•

en:poor musculature

•

en:neck muscle weakness

•

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

•

en:myofibrillar lesions

•

en:myalgia

•

en:muscle weakness in forearm muscles

•

en:muscle weakness and atrophy

•

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

•

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

•

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

•

en:muscle shows lipid accumulation

•

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

•

en:abdominal muscle hypoplasia

•

en:weakness and wasting of the lower limbs

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:upper limb muscle hypoplasia

•

en:umbilical depression

•

en:type ii fiber predominance

•

en:type 2 fiber predominance

•

en:type 1 fiber atrophy

•

en:z-line streaming see on electron microscopy

•

en:tubular aggregates in muscle fibers may occur

•

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

•

en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade

•

en:thenar eminence hypoplasia

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:ragged red fibers (in some patients)

•

en:proximal muscle weakness (in some patients)

•

en:progressive distal muscle weakness

•

en:muscle weakness, mainly proximal and axial

•

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

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:clumsiness

•

en:distal muscle weakness, affecting the lower limbs

•

en:difficulty walking and climbing stairs

•

en:deposits immunoreactive to beta-amyloid protein

•

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

•

en:decreased expression of the vdac1 protein

•

en:decreased coenzyme q10

•

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

•

en:casq1-immunopositive inclusions

•

en:edema of lower extremity

•

en:berardinelli-seip congenital lipodystrophy

•

en:axial muscle hyperextension, episodic

•

en:atrophy of neck muscles may occur later

•

en:angular atrophic fibers

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:absence of some scapular muscles (less common)

•

en:muscle biopsy shows dystrophic pattern

•

en:abnormal sarcoplasmic reticulum elements

•

en:distal muscle weakness in lower limbs, severe

•

en:decreased activity of complexes ii+iii

•

en:emg may show neurogenic changes

•

en:increased muscle lipid content

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows decreased postsynaptic areas of clefts and folds

•

en:muscle biopsies show variation in fibrodiameter, internal nuclei, atrophy of type i fibers, focal loss of cross- striations, and cores of myofibrillar disruption with associated absence of mitochondria

•

en:mitochondrial dna depletion (in some)

•

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

•

en:macroglossia

•

en:loss of ambulation (in some patients)

•

en:lipodystrophy

•

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

•

en:inclusions are dnajb6-immunoreactive

•

en:gowers sign (in some patients)

•

en:generalized muscle weakness

•

en:generalized muscle hypertrophy

•

en:floppy infant

•

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

•

en:endomysial fibrosis

•

en:emg shows myopathy

•

en:muscle cramps at rest

•

en:muscle biopsy shows sarcoplasmic or subsarcolemmal vacuoles in muscle fibers

•

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

•

en:muscle weakness, proximal greater than distal

•

en:muscle fatigue

•

en:muscle hypertrophy (meb)

•

en:muscle weakness, variable

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows neurogenic changes

•

en:marked muscular hypertrophy

•

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

•

en:muscle biopsy shows dystrophic changes

•

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

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy in the limbs

•

en:mitochondrial complex i deficiency

•

en:mild atrophy of the proximal lower limbs

•

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

•

en:myopathy in approximately 45% of patients

•

en:myopathic changes seen on biopsy

•

en:thenar muscle atrophy

•

en:myotonic discharges

•

en:proximal muscle weakness more severe than distal muscle weakness

•

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

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:soft tissue vascular malformations

•

en:soft fleshy palms (50%)

•

en:small endplate

•

en:secondary myopathic changes

•

en:rupture of muscle

•

en:pyruvate oxidation defect

•

en:proximal limb muscle weakness initially

•

en:nemaline bodies

•

en:proximal amyotrophy

•

en:prominent involvement of the quadriceps femoris muscles

•

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

•

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

•

en:predominance of oxidative fibers

•

en:neuropathic or myopathic changes seen on emg

•

en:neurogenic changes

•

en:neurogenic abnormalities seen on emg

•

en:lymphangitis, episodic

•

en:arm/shoulder muscle hypoplasia

•

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

•

en:complex v deficiency

•

en:dystrophic features

•

en:dystrophic changes seen on muscle biopsy

•

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

•

en:distal limb muscle weakness occurs later

•

en:decreased thiamine pyrophosphate

•

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

•

en:decreased muscle mass, especially distally

•

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

•

en:coenzyme q10 deficiency

•

en:electromyography shows myotonic discharges

•

en:centralized myonuclei

•

en:carpopedal spasm

•

en:buffalo hump (rare)

•

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

•

en:biopsy muscle normal

•

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

•

en:accumulation of abnormal mitochondria

•

en:absence of pectoralis minor muscle

•

en:edema, subcutaneous, generalized

•

en:emg - repetitive muscle discharges

•

en:lipid droplet accumulation

•

en:hypertonia

•

en:lack of facial subcutaneous fat

•

en:isolated necrotic fibers

•

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

•

en:impaired heel-walking

•

en:hypotonia (cvs+)

•

en:hypoplasia of serratus anterior muscle

•

en:hypoplasia of cervical paravertebral muscles

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hangrip myotonia

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:gowers sign present

•

en:gowers sign

•

en:generalized amyoplasia

•

en:fat pad between achilles tendon and medial malleolus

•

en:fatty degeneration of muscle seen on mri

•

en:fasciculations (less common)

•

en:fasciculation

•

en:enteroviral dermatomyositis syndrome

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:type 2 muscle fiber atrophy

•

en:vacuolar myopathy may occur

•

en:muscle hematoma

•

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

•

en:myopathic pattern on emg

•

en:muscle weakness (in 90% of patients)

•

en:muscle wasting in lower limbs

•

en:muscle wasting, progressive

•

en:muscle stiffness or aching

•

en:muscle pain and cramping on exertion

•

en:muscle mounding

•

en:muscle biopsy shows variation in fiber size

•

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

•

en:muscle biopsy shows type 2 fiber atrophy (see details under neurologic heading)

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows grouped atrophy

•

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

•

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

•

en:mitochondrial swelling

•

en:lymphedema of upper and/or lower limbs (in some patients)

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:normal or increased adipose tissue around the neck

•

en:lower and upper limbs affected

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

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

•

en:virtually no active movement at birth (wws)

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:unable to walk

•

en:type 2 muscle fiber predominance

•

en:triceps aplasia

•

en:tenderness of lower extremities

•

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

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:normal phosphorylase kinase activity in muscle

•

en:subcutaneous fat markedly reduced

•

en:small and incompletely fused muscle fibers seen on biopsy

•

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

•

en:rhabdomyolysis, episodic

•

en:prominent muscular appearance

•

en:primary myopathic changes seen on emg

•

en:poor exercise tolerance

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:painful swelling in fasciae

•

en:lymphangiectasia

•

en:variable fiber size

•

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

•

en:calf atrophy (later onset)

•

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

•

en:edema at birth

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal leg muscle atrophy

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:decreased complex i activity (rare)

•

en:cores contain densely packed myofilaments

•

en:buffalo hump

•

en:fasciculations (in some patients)

•

en:biopsy shows myopathic and dystrophic changes

•

en:bilateral foot drop

•

en:attacks of weakness

•

en:asymmetric muscle involvement

•

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

•

en:weak extraocular muscles

•

en:weakness of anterior compartment tibial muscles

•

en:limb weakness, proximal followed by distal

•

en:emg shows reduction of voluntary recruitment

•

en:weakness of the intrinsic hand muscles (in some patients)

•

en:fetal akinesia deformation sequence

•

en:increased glycogen

•

en:limb-girdle muscle atrophy

•

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

•

en:large lipid droplets

•

en:jitter

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

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

•

en:foot extensor muscle weakness (later onset)

•

en:increased perisarcolemmal calcium deposition

•

en:increased variability in muscle fiber diameter

•

en:increased endo- and perimysial connective tissue

•

en:hypoplasia of supraspinatus muscle

•

en:generalized weakness (adult-onset)

•

en:increased connective tissue

•

en:hematoma

•

en:hand muscle atrophy

•

en:hyporeflexia

•

en:hypotonic

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:increased adipose fibrosis

•

en:poor head control

•

en:pelvic girdle muscle atrophy

•

en:normal dystrophin immunostaining

•

en:nonspecific myopathy

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:necrotic and regenerating muscle fibers

•

en:neck muscle hypoplasia

•

en:muscle strength and bulk is preserved

•

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

•

en:muscular dystrophy (in some patients)

•

en:muscle weakness of limb

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness

•

en:muscle wasting due to chronic denervation

•

en:poor muscle build

•

en:waddling gait

•

en:progressive distal and proximal symmetric limb weakness

•

en:wrist swelling

•

en:muscle mri shows fatty infiltration

•

en:congophilic inclusions

•

en:cellulitis or infection may occur

•

en:bulbar weakness

•

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

•

en:atrophy of the intrinsic foot and hand muscles

•

en:ankle reflex absent

•

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

•

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

•

en:progressive loss of facial adipose tissue

•

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

•

en:upper limb involvement occurs later or not at all

•

en:umbilical cord bleeding

•

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

•

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

•

en:small rounded fibers

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:proximal and distal muscle atrophy in lower limbs

•

en:muscle spasm

•

en:easy bruisability of lower extremities

•

en:muscle hypertrophy may occur

•

en:decreased ability to run

•

en:difficulty climbing stairs, jumping, running

•

en:denervation of skeletal muscles

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

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

•

en:decreased distal reflexes

•

en:decreased activity and protein levels of respiratory chain complexes i, ii, iii, and iv

•

en:calf muscle weakness

•

en:distal lower limb anterior compartment weakness

•

en:calf hypertrophy (less common)

•

en:broad-based gait

•

en:attacks may present during or after sleep

•

en:atrophy of upper girdle muscles

•

en:atrophy

•

en:ascites (in some patients)

•

en:acute rhabdomyolysis

•

en:absence of caveolin-3 staining

•

en:difficulty rising from chair

•

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

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:limb muscle weakness, proximal, upper and lower

•

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

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle aches, intermittent

•

en:mri may show cervical spinal cord atrophy

•

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

•

en:decreased activities of complexes i and iv

•

en:mild muscle weakness

•

en:increased muscle tone in the lower limbs

•

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

•

en:increased mitochondria with abnormal cristae

•

en:hypotonia (2 patients)

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:frontalis muscle weakness

•

en:exertional fatigue

•

en:emg shows high-frequency spontaneous discharges

•

en:emg shows denervation

•

en:emg may show myopathic features

•

en:cytochrome c oxidase-negative fibers

•

en:myopathic changes seen muscle biopsy

•

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

•

en:neurogenic atrophy seen on muscle biopsy

•

en:rare necrotic fibers

•

en:pseudohypertrophy of muscle

•

en:progressive muscle weakness

•

en:predominantly lower limb lymphedema

•

en:polyglucosan accumulation

•

en:plantar fibromatosis

•

en:no muscle weakness

•

en:nerve conduction studies normal

•

en:reduced muscle mass

•

en:necrotic and regenerating fibers

•

en:myopathy, nonprogressive

•

en:myalgia (in some patients)

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs

•

en:muscle weakness, primarily proximal

•

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

•

en:muscle fiber atrophy, profound (rare)

•

en:rectus medial atrophy

•

en:redundancy of basal lamina with accumulated debris

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

•

en:wasted lower leg muscles

•

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

•

en:upper limb involvement may occur later

•

en:ubiquinone decreased

•

en:type 2 fiber atrophy see on biopsy

•

en:type 1 fiber predominance

•

en:tubular aggregates seen on biopsy

•

en:sarcomere disappearance seen on muscle biopsy

•

en:tubular aggregates mainly in type 1 fibers

•

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

•

en:tendon tears

•

en:swelling of the hands and feet, episodic

•

en:small, angulated muscle fibers seen on muscle biopsy

•

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

•

en:shoulder girdle muscle atrophy

•

en:sarcoplasmic inclusions

•

en:muscle coenzyme q deficiency

•

en:z-band streaming

•

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

•

en:electromyogram abnormal

•

en:hang weakness

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:global muscle weakness

•

en:generalized muscular appearance from birth

•

en:fibrillation

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:exercise intolerance (less common)

•

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

•

en:hypotonia (untreated hypothyroidism)

•

en:distal muscle weakness and atrophy

•

en:distal lower limb amyotrophy

•

en:disruption of the m-line

•

en:difficulty walking up stairs

•

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

•

en:degrading mitochondria

•

en:muscle biopsy shows dystrophic features

•

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

•

en:histochemically normal type-ii muscle fibers

•

en:degenerate mitochondrial on em

•

en:impaired mitochondrial respiration

•

en:lymphedema

•

en:muscle biopsy may show inflammatory changes

•

en:inability to jump or squat

•

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

•

en:mitochondrial dna depletion, severe

•

en:mild weakness

•

en:mildly decreased cytochrome c oxidase activity

•

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

•

en:lymphedema (lower limb)

•

en:muscle atrophy appears later in disease course

•

en:lower limb muscle atrophy

•

en:lipodystrophy (in some patients)

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:leg edema

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:increased intramuscular fat

•

en:increased centralized nuclei

•

en:lipoma

•

en:increased endomysial fibrosis

•

en:muscle biopsy shows decreased secondary clefts

•

en:muscle pain after exercise

•

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

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle amyotrophy

•

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

•

en:muscle atrophy (1 patient)

•

en:muscle atrophy, diffuse, severe

•

en:mitochondrial paracrystalline inclusion bodies

•

en:lymphedema of lower extremity

•

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

•

en:low muscle mass

•

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

•

en:muscle weakness, proximal, limb-girdle

•

en:loss of subcutaneous fat

•

en:painful swelling in aponeuroses

•

en:muscle weakness and atrophy, distal

•

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

•

en:thick palmar fascia

•

en:lipid and glycogen accumulation

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:sparing of anterior tibialis muscle

•

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

•

en:rhabdomyolysis

•

en:reduced muscle tone but normal power

•

en:reduced muscle bulk

•

en:pharyngeal muscle weakness

•

en:muscle weakness is not a feature

•

en:peroneal muscle atrophy

•

en:numerous vacuole-like areas

•

en:no staining for periodic acid schiff (pas)

•

en:normal mitochondrial morphology (1 patient)

•

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

•

en:myotonia is usually not seen

•

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

•

en:myopathic changes on pathology

•

en:loss of adipose tissue occurs around puberty

•

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

•

en:limb-girdle myopathy

•

en:attacks precipitated by cold temperature

•

en:centralized nuclei may be seen

•

en:cellulitis due to immunodeficiency

•

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

•

en:calf and thigh cramping muscle pains

•

en:biopsy shows defects in pyruvate oxidation

•

en:biceps aplasia

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:atrophy, neurogenic muscular

•

en:central nuclei

•

en:angulated atrophic fibers

•

en:amyotrophy affects c5 to t1 myotomes

•

en:alimentary edema

•

en:acquired partial lipodystrophy

•

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

•

en:abnormal distribution of subcutaneous fat

•

en:abnormal aggregates of desmin and filamin c

•

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

•

en:centrally nucleated skeletal muscle fibers

•

en:cores or minicores

•

en:large hypertrophied fibers

•

en:fiber necrosis

•

en:increased focal mitochondrial density

•

en:increased fatigue

•

en:hypotrophy of type 1 fibers

•

en:hypertonicity of the lower limbs

•

en:hyaline plaques with absent oxidative activity

•

en:hip flexor weakness

•

en:glycogen deficiency in muscle fibers

•

en:facial muscle atrophy

•

en:cranial muscles spared

•

en:exercise capacity decreased

•

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

•

en:emg shows neurogenic changes

•

en:emg shows myopathic and neurogenic changes

•

en:distal muscle weakness, occurs initially

•

en:degenerating fibers

•

en:decreased muscle mass in the thighs

•

en:decreased muscle mass (especially of limbs)

•

en:tubular aggregates seen on muscle biopsy

•

en:depletion of mitochondrial dna

•

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

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness associated with fasting or infection

•

en:muscle weakness, proximal and distal

•

en:muscle stiffness

•

en:muscle pain (less common)

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

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

•

en:muscle atrophy (variable)

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:multi-core congenital myopathy

•

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

•

en:many fibers with internal nuclei

•

en:loss of gluteal adipose tissue

•

en:loss of ability to walk in early childhood

•

en:limb lymphedema (in some patients)

•

en:internal nuclei

•

en:myopathic changes early in disease seen on emg

•

en:myotonia is present in majority of cases

•

en:increased mitochondria seen on muscle biopsy

•

en:rimmed vacuoles on biopsy

•

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

•

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

•

en:thickened subcutaneous tissue

•

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

•

en:smooth muscle may also become involved

•

en:shoulder muscle weakness

•

en:secondary myopathic features

•

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

•

en:no staining for oxidative enzymes

•

en:ragged-red fibers seen on muscle biopsy

•

en:proximal muscle weakness, less severe

•

en:proximal muscles more often affected

•

en:prominent involvement of the biceps brachii muscles

•

en:poor head control in infancy

•

en:percussion myotonias

•

en:onset of lymphedema around puberty

•

en:nuclear clumps

•

en:increased visceral fat

•

en:usually no myopathic changes on biopsy

•

en:increased internal nuclei in skeletal muscle fibers

•

en:congenital, nonprogressive myopathy

•

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

•

en:easy fatigability

•

en:dystrophic changes

•

en:distal muscle weakness occurs later

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased coenzyme q10 levels in muscle

•

en:abnormal fat accumulation below the triceps (in some patients)

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:emg shows fibrillation potentials

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:central cores seen on muscle biopsy

•

en:calf pseudohypertrophy rare

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:atrophic fibers

•

en:areflexia of lower limbs

•

en:absence of collagen vi immunostaining

•

en:emg shows fasciculations

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:enlarged nuclei with central pallor

•

en:generalized limb muscle atrophy

•

en:hypotonia, generalized (in some patients)

•

en:evidence of lymphatic rerouting

•

en:hypotonia, axial, severe

•

en:hypothenar muscle atrophy

•

en:hyporeflexia of lower limbs

•

en:hypoplasia of infraspinatus muscle

•

en:handgrip myotonia

•

en:hamstring and quadriceps muscles mildly affected

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:gastrocnemius and soleus muscles most affected

•

en:frequent falls

•

en:focal loss of cross striations on muscle biopsy

•

en:fibromyalgia

•

en:fiber type grouping

•

en:fat pad anterior to malleolus

•

en:fat accumulation in the suprabuttock area

•

en:exercise-induced weakness

•

en:gait, drop foot

•

en:myopathy

•

en:pectoralis major hypoplasia

•

en:paracrystalline inclusions

•

en:nemaline rods may be observed

•

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

•

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

•

en:necrosis and degeneration seen on muscle biopsy

•

en:muscle weakness, distal (in some patients)

•

en:muscle weakness trunk

•

en:muscle weakness after cooling or on warming affected muscle

•

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

•

en:muscle weakness, limb-girdle, mild

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle biopsy shows pas-positive glycogen-containing vacuoles

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

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

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

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

•

en:scapuloperoneal weakness

•

en:muscle biopsy shows abnormal mitochondria

•

en:stiffness

•

en:skeletal muscle shows dystrophic changes

•

en:skeletal muscle may show less severe mtdna deletion

•

en:skeletal muscle biopsy shows reducing bodies

•

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

•

en:signs of denervation seen on biopsy

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:replacement of affected muscle tissue with fatty tissue

•

en:reduced ankle dorsiflexion

•

en:rectus fascia separation

•

en:quadriceps muscle spared

•

en:proximal muscle weakness in lower limbs

•

en:proximal muscle weakness (85% of patients)

•

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

•

en:proximal muscle atrophy (in some patients)

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:forearm muscle weakness

•

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

•

en:decreased muscle action potential after warming affected muscle

•

en:easy fatigability with exercise

•

en:distal muscle wasting, mild

•

en:distal muscle atrophy due to denervation

•

en:degenerative changes with increased connective tissue

•

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

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decreased muscle density on imaging

•

en:decreased hand grip strength

•

en:edema (hands and feet)

•

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

•

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

•

en:cox-deficient fibers

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophic muscle fibers

•

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

•

en:tubulofilamentous nuclear or cytoplasmic inclusions (15-18 nm)

•

en:edema

•

en:emg shows fibrillations

•

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

•

en:lipohypoplasia, regional

•

en:mitochondria dna deletion

•

en:mitochondrial dna deletion (1 patient)

•

en:minimal subcutaneous fat

•

en:minicores or core-like regions may be present

•

en:mild weakness of the small hand muscles

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:lower limbs more affected than upper limbs

•

en:lipoatrophy, generalized

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:limb weakness and atrophy

•

en:involves upper and lower proximal muscles

•

en:head drop due to neck muscle weakness

•

en:haemorrhage subcutaneous

•

en:grip strength decreased

•

en:gluteal hypoplasia

•

en:giant granules in muscle cells

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:triceps weakness

•

en:emg may showed myotonic discharges

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:muscle cramps affect the upper and lower limbs

•

en:myopathic changes seen on emg of affected muscle

•

en:muscle weakness usually does not occur

•

en:muscle weakness, severe, proximal and distal

•

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

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle fiber regeneration

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows small nerve terminals

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

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

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle atrophy

•

en:myopathy with abnormal lipid metabolism

•

en:neck flexor weakness

•

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

•

en:sparing of small hand and finger muscles

•

oedème facial

•

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

•

en:variably decreased alpha-dystroglycan expression (dag, 128239)

•

en:vacuolar degeneration

•

en:trunk muscle atrophy

•

en:transient neonatal hypotonia (less common)

•

en:swelling of the affected areas

•

en:some patients become wheelchair-dependent

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:slowly progressive limb-girdle myopathy

•

en:skeletal muscle biopsy shows fat droplets in sarcoplasm and mitochondria

•

en:rhabdomyolysis (in some patients)

•

en:retroperitoneal fibrosis (rare)

•

en:rectus abdominis muscle separation

•

en:neurogenic changes seen on emg and biopsy

•

en:nemaline rod formation

•

en:nemaline bodies are rarely intranuclear

•

en:muscle aches, cramps

•

en:myxedematous appearance

•

en:minicores extend full fiber diameter

•

en:congophilic deposits

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness due to neuropathy

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

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

•

en:difficulty rising from a squatting position

•

en:decreased postsynaptic length

•

en:deafferentation

•

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

•

en:dystrophic changes may be present

•

en:centrally located nuclei seen on muscle biopsy

•

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

•

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

•

en:absence of necrosis

•

en:abnormalities in myofibril organization

•

en:variably decreased activities of mitochondrial respiratory complexes i, ii, and iv

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:dysphagia

•

en:decreased cytochrome c oxidase activity

•

en:edema, generalized

•

en:increased fatty and connective tissue in skeletal muscle

•

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

•

en:loss of subcutaneous adipose tissue in limbs

•

en:loss of lower-limb tendon reflexes

•

en:loss of antigravity strength

•

en:lipoatrophic appearance

•

en:lipid droplets seen on muscle biopsy

•

en:inguinal hernia

•

en:increased fibrosis

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:hypotonia, truncal and appendicular

•

en:hyperactive deep tendon reflexes

•

en:hip abductor weakness and atrophy

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized muscle weakness (less common)

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:eosinophilic inclusions

•

en:emg shows increased insertion activity and fibrillation

•

en:muscle atrophy, progressive

•

en:muscle hypertrophy of the lower extremities

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows centralized nuclei

•

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

•

en:muscle atrophy (in some patients)

•

en:mitochondrial myopathy, severe

•

en:muscle activity is electrically silent on emg

•

en:mtdna deletions seen on muscle biopsy

•

en:mri shows fatty infiltration of affected muscles

•

en:mitochondria show paracrystalline inclusions

•

en:muscle weakness, predominantly proximal

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:lymphedema, hands (rare)

•

en:lower limb muscle hypotrophy

•

en:lower limbs more often affected

•

en:muscle wasting (especially legs and arms)

•

oedème de la face

•

en:muscle weakness (1 patient)

•

en:progression to wheelchair in fourth decade

•

en:variation of myofiber diameter

•

en:vacuoles are autophagocytic

•

en:tubulofilamentous inclusions

•

en:tetany

•

en:skeletal muscle weakness

•

en:quadriceps atrophy (later onset)

•

en:proximal lower limb amyotrophy

•

en:positive staining for atpase activity at ph of 4.3

•

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

•

en:poor muscle bulk

•

en:phagocytic vacuoles with degraded membranous material

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:pectoralis hypoplasia

•

en:no lipodystrophy in face and neck

•

en:myokymia

•

en:myasthenias

•

en:muscular rigidity

•

en:loss of truncal subcutaneous adipose tissue

◀

Génériques

[F] [H]

›

* en:secondary

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7120448 • caches: c1=20 c2=1108 c3=24

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