Le Diko - en:weakness of anterior compartment tibial muscles

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Le Diko - en:weakness of anterior compartment tibial muscles

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le dictionnaire d'associations lexicales
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en:weakness of anterior compartment tibial muscles

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:proximal lower limb amyotrophy

•

en:onset of lymphedema around puberty

•

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

•

en:'sloping' shoulders due to muscle atrophy

•

en:decreased density of calcium release units

•

en:handgrip myotonia

•

en:hip flexor weakness

•

en:hypertonicity of the lower limbs

•

en:muscle cramps (also seen in some heterozygotes)

•

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

•

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

•

en:z-line streaming see on electron microscopy

•

en:decreased activity of respiratory complex ii+iii

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:degenerating junctional folds

•

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

•

en:increased connective tissue and fat

•

en:increased fatty infiltration

•

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

•

en:muscle weakness, severe, diffuse

•

en:affected muscles show atrophy

•

en:calf muscle pseudohypertrophy

•

en:degrading mitochondria

•

en:increased endo- and perimysial connective tissue

•

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

•

en:fiber-type grouping pattern

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:difficulty walking

•

en:lymphedema, dorsa of feet

•

en:peroneal muscle weakness

•

en:muscle biopsy shows centralized nuclei

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:painful adipose tissue

•

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

•

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

•

en:electron microscopy showed z-disk streaming

•

en:increased lysosomal glycogen

•

en:loss of truncal subcutaneous adipose tissue

•

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

•

en:muscle weakness in forearm muscles

•

en:neurogenic atrophy seen on muscle biopsy

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:umbilical cord bleeding

•

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

•

en:absence of gamma-sarcoglycan protein

•

en:biopsy shows dystrophic changes

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:lipid storage, mainly in type i fibers

•

en:lower limb atrophy

•

en:mitochondrial paracrystalline inclusion bodies

•

en:reduced subcutaneous fatty tissue

•

en:sparing of the anterior tibial compartment

•

en:myopathic and neurogenic changes seen on emg

•

en:carpopedal spasm

•

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

•

en:increased centralized internal nuclei

•

en:increased endomysial fibrosis

•

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

•

en:distal myopathy (in 1 family)

•

en:myopathy in approximately 45% of patients

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:congenital absence of gluteal muscles

•

en:severe muscular hypotonia

•

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

•

en:postsynaptic abnormalities

•

en:poor sarcomeric structure (in some patients)

•

en:lipohypoplasia, regional

•

en:proximal weakness

•

en:neuropathic process seen on muscle biopsy

•

en:mildly decreased cytochrome c oxidase activity

•

en:easily fatigued (finding)

•

en:impaired heel-walking

•

en:hypoglycosylation of alpha-dystroglycan

•

en:walking delay

•

en:abnormal z bands

•

en:small type ii fibers

•

en:heterotopic bone formation in subcutaneous fat

•

•

en:muscle hypertrophy of the lower extremities

•

en:ubiquinone decreased

•

en:some patients never achieve ambulation

•

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

•

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

•

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

•

en:forearm muscle weakness

•

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

•

en:electromyography shows myotonic discharges

•

en:central nuclei

•

en:decreased postsynaptic length

•

en:disruption plasma membrane (in some patients)

•

en:edematous hands and feet (1 patient)

•

en:generalized muscle weakness (less common)

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

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

•

en:secondary loss of merosin and desmin

•

en:fiber size variation (in some patients)

•

en:firm muscles

•

en:hypotonia from birth to age 12

•

en:hypotrophy of the small hand muscles

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:toe-walking gait

•

en:distal muscle wasting, mild

•

en:abnormal fatigue

•

en:calf pseudohypertrophy rare

•

en:degenerating fibers

•

en:facial muscle atrophy

•

en:fiber type variation seen on biopsy

•

en:limb-girdle muscular dystrophy

•

en:bilateral foot drop

•

en:centralized myonuclei

•

en:distal muscle weakness, predominantly lower limbs

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

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

•

en:preserved heel standing

•

en:nemaline rods (rare)

•

en:myalgia, episodic

•

en:some abnormal aggregation of mitochondria

•

en:muscle weakness

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

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

•

en:increased mitochondria seen on muscle biopsy

•

en:casq1-immunopositive inclusions

•

en:difficulty standing

•

en:distal lower limb anterior compartment weakness

•

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

•

en:loss of sarcomeric striations

•

en:lymphedema of the extremities

•

en:mitochondrial dna deletions (in some patients)

•

en:muscle weakness (in some patients)

•

en:myotonia is most pronounced in the extremities

•

en:normal mitochondrial morphology (1 patient)

•

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

•

en:muscle pain (in some patients)

•

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

•

en:onset of weakness in hands and feet

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:walking may be limited

•

en:waddling gait

•

en:repetitive response to single nerve stimulation

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:muscle weakness associated with fasting or infection

•

en:muscle hypertrophy in affected area

•

en:muscle biopsy shows variation in fiber size (family a)

•

en:difficulty walking, running, climbing stairs

•

en:difficulty running or inability to run

•

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

•

en:muscles have a woody consistency on palpation

•

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

•

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

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:increased fibrosis (in some patients)

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle atrophy, mild, more proximal than distal

•

en:limb muscle weakness, proximal, upper and lower

•

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

•

en:minimal subcutaneous fat

•

en:lymphedema (lower limb)

•

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

•

en:loss of ambulation between third and sixth decade

•

en:limb muscular atrophy

•

en:internal nuclei seen on muscle biopsy

•

en:increased number of small endplates

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:ragged red fibers seen on skeletal muscle biopsy

•

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

•

en:poor muscle mass

•

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

•

en:rhabdomyolysis may occur

•

en:rhabdomyolysis, episodic

•

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

•

en:relative sparing of the tibialis anterior

•

en:increased fatigability

•

en:proximal muscle atrophy (in some patients)

•

en:progressive proximal muscle involvement

•

en:preserved nerve terminals seen on muscle biopsy

•

en:no staining for oxidative enzymes

•

en:muscle spasticity

•

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

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myopathic changes early in disease seen on emg

•

en:myogenic profile on electromyography

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, mainly proximal

•

en:muscle weakness, episodic

•

en:muscle weakness, congenital

•

en:increased fatty and connective tissue in skeletal muscle

•

en:distal limb muscle atrophy (less common)

•

en:impaired toe-walking

•

en:calf muscle hypertrophy

•

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

•

en:decreased cytochrome c oxidase activity

•

en:decreased caveolin-3 expression on muscle biopsy

•

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

•

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

•

en:decreased achilles reflex

•

en:cores extend along length of muscle fiber

•

en:congenital, nonprogressive myopathy

•

en:calf atrophy (later onset)

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:biopsy shows myopathic and dystrophic changes

•

en:axial muscle hyperextension, episodic

•

•

en:ankle reflex absent

•

en:angulated atrophic muscle fibers

•

en:absence of muscle pseudohypertrophy

•

en:abnormal mitochondria

•

en:abnormal jitter

•

en:severely decreased or absent lamp2 protein

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased muscle density on imaging

•

en:imaging shows progressive fatty infiltration of muscle

•

en:distal muscle weakness, affecting the lower limbs

•

en:hypotonia, severe (patient b)

•

en:hypotonia, generalized (in some patients)

•

en:hypoplasia of serratus anterior muscle

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:fibrous dysplasia (rare)

•

en:facial diplegia

•

en:dystrophic features

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:distal muscle atrophy due to peripheral neuropathy

•

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

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:degenerative features seen on muscle biopsy

•

en:degenerating mitochondria

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

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

•

en:decreased numbers of achr seen on muscle biopsy

•

en:secondary myopathic changes

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:skeletal muscle biopsy shows dystrophic changes

•

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

•

en:muscle fibers contain internal nuclei

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows lipid droplets

•

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

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:myopathic pattern on emg

•

en:mri may show cervical spinal cord atrophy

•

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

•

en:mild variability in muscle fiber size

•

en:lymphedema of the hands (in some patients)

•

en:lower limbs more affected than upper limbs

•

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

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:loss of adipose tissue occurs around puberty

•

en:myofibrillar disintegration

•

en:nemaline rod formation

•

en:lipodystrophy

•

en:reduced postsynaptic cleft area

•

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

•

en:superficial rerouting of lymph through the skin

•

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

•

en:tubular aggregates in muscle fibers may occur

•

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

•

en:tetanus-like muscle contractions

•

en:smooth muscle may also become involved

•

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

•

en:relatively preserved limb strength

•

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

•

en:normal dystrophin immunostaining

•

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

•

en:quadriceps weakness

•

en:progressive distal muscle weakness

•

en:progression to wheelchair in fourth decade

•

en:preserved junctional structure seen on muscle biopsy

•

en:positive staining for slow myosin heavy chain

•

en:positive staining for atpase activity at ph of 4.3

•

en:patchy muscle fiber degeneration

•

en:normal or decreased facial and neck adipose tissue

•

en:lipodystrophy (in some patients)

•

en:muscle wasting, severe, primarily in the legs

•

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

•

en:atrophy of shins

•

en:decremental response to repetitive nerve stimulation

•

en:decreased muscle bulk (in one patient)

•

en:decreased coenzyme q10 content

•

en:contractures of distal lower limbs

•

en:broad-based gait

•

en:biopsy shows myopathy without vacuoles

•

en:axial muscle weakness

•

en:attacks relieved by potassium administration

•

en:atrophy of type 1 and type 2 fibers

•

en:amorphous granulofilamentous material associated with z-discs

•

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

•

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

•

en:absence of merosin in muscle

•

en:abnormal muscle tone

•

en:abnormal mitochondrial morphology

•

en:vacuolar degeneration

•

en:upper limb muscle hypoplasia

•

en:levator palpebrae superioris atrophy

•

en:thin filament shortening and disorganization (in some patients)

•

en:thenar eminence hypoplasia

•

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

•

en:biceps brachii atrophy

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:generalized muscle wasting

•

en:increased lipid droplets and abnormal mitochondria

•

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

•

en:hypotonia, severe, persistent

•

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

•

en:hypertonicity (uncommon)

•

en:hip girdle muscle atrophy

•

en:hematomas, recurrent large subcutaneous

•

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:giant granules in muscle cells

•

en:fibrillation

•

en:emg shows myopathic features

•

en:emg shows fibrillations

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

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

•

en:edema reoccurs with infections

•

en:endplate myopathy

•

en:edema (hands and feet)

•

en:dystrophic skeletal muscle seen on biopsy

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle biopsy shows neurogenic changes

•

en:muscle pain after exercise

•

en:muscle mounding

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle biopsy shows atrophy

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:muscle atrophy appears later in disease course

•

en:muscle aches, intermittent

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mtdna deletions seen on muscle biopsy

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mitochondrial swelling

•

en:mitochondrial proliferation

•

en:marked variability of fiber size

•

en:lymphedema of lower extremity

•

en:muscle weakness, mild, proximal and distal

•

en:low maximum workload on exercise testing

•

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

•

en:replacement of myofibers with connective tissue

•

en:muscle weakness, primarily proximal

•

en:pelvic girdle muscle atrophy

•

en:lipomas or lipomatous masses (most cases)

•

•

en:rhabdomyolysis (in some patients)

•

en:proximal muscle weakness (85% of patients)

•

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

•

en:prominent involvement of the quadriceps femoris muscles

•

en:progressive loss of facial adipose tissue

•

en:progressive distal and proximal symmetric limb weakness

•

en:pharyngeal muscle weakness

•

en:pectoralis major hypoplasia

•

en:muscle weakness, proximal and distal

•

en:nuclear clumps

•

en:normal or increased facial adipose tissue

•

en:normal neonatal period may occur before weakness is apparent

•

en:neonatal hypotonia

•

en:nemaline bodies occur in type 1 fibers

•

en:neck flexor weakness

•

•

en:myofibrillar myopathy

•

•

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

•

en:loss of achr

•

en:alimentary edema

•

en:lipoatrophic appearance

•

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

•

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

•

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

•

en:decremental muscle response to repetitive nerve stimulation

•

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

•

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

•

en:decreased muscle mitochondrial aconitase

•

en:decreased muscle mass (especially of limbs)

•

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

•

en:decreased atp production

•

en:congophilic staining

•

en:difficulty raising arms

•

en:central cores seen on muscle biopsy

•

en:autophagosome

•

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

•

en:atrophy of neck muscles may occur later

•

en:angular fibers (in some patients)

•

•

en:amyotrophy, neurogenic

•

en:acute rhabdomyolysis

•

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

•

en:skeletal muscle weakness

•

en:difficulty climbing stairs, jumping, running

•

en:distal limb muscle weakness (less common)

•

en:lipid and glycogen accumulation

•

en:hypoplasia of cervical paravertebral muscles

•

en:limb hypertonia

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:internal nuclei (in some patients)

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:inflammatory cells absent

•

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

•

en:increased muscle glycogen content

•

en:increased lipid

•

en:hypoplasia of the hand muscles (29%)

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

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

•

en:gowers sign present

•

en:generalized muscle weakness

•

en:focal loss of cross striations seen on muscle biopsy

•

en:floppy infant syndrome

•

en:fiber type grouping

•

en:fiber-type variability

•

en:familial generalized lipodystrophy

•

en:emg shows myopathic changes

•

en:emg shows fibrillation potentials

•

en:electromyogram abnormal

•

en:sarcomere disappearance seen on muscle biopsy

•

en:extensor finger muscle weakness

•

en:some patients become wheelchair-dependent

•

en:muscle fiber necrosis

•

en:neck muscle hypoplasia

•

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

•

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

•

en:myotonia seen on emg

•

en:myositis (in some patients)

•

en:myopathy seen on emg

•

en:muscle weakness (1 patient)

•

en:muscle weakness, upper and lower limbs

•

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

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:neurogenic abnormalities seen on emg

•

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

•

en:motor clumsiness

•

en:minipolymyoclonus

•

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

•

en:loss of ability to walk in early childhood

•

en:limb lymphedema (in some patients)

•

en:involves upper and lower proximal muscles

•

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

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased staining for myotilin, dystrophin, desmin

•

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

•

en:neuropathic or myopathic changes seen on emg

•

en:increased internal nuclei

•

en:rimmed vacuoles with basophilic granular material

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:weakness worsened by activity

•

en:variation in fibrodiameter seen on muscle biopsy

•

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

•

en:type 2 fiber predominance

•

en:triceps weakness

•

en:swelling of the extremities, episodic

•

en:skeletal myopathy

•

en:short and thickened z-discs

•

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

•

en:nonspecific muscle fiber atrophy

•

en:respiratory distress (congenital form)

•

en:reduced muscle strength (in some patients)

•

en:proximal muscle weakness (120270.0002)

•

en:proximal muscle involvement may occur

•

en:prolonged miniature endplate currents

•

en:polymyositis

•

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

•

en:painful swelling in aponeuroses

•

en:no staining for periodic acid schiff (pas)

•

en:no myofibrillar abnormalities or protein aggregation

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:increased focal mitochondrial density

•

en:coenzyme q10 deficiency

•

en:denervation seen on emg

•

en:delayed ambulation

•

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

•

en:decreased muscle mass in the thighs

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased achr

•

en:cox-deficient fibers

•

en:congophilic deposits

•

en:chronic denervation seen on emg

•

en:disruption of sarcomeres with disorganization of the z band

•

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

•

en:absence of myotonia in infancy (congenital form)

•

en:'hanging' big toe

•

en:widening of the synaptic cleft

•

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

•

en:usually no myopathic changes on biopsy

•

en:upper limb weakness

•

•

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

•

en:increased fatigue

•

en:depletion of mitochondrial dna

•

en:thickening of fascia of forearm

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:hypertonia in infancy

•

en:immunoreactivity for z-disk proteins

•

en:imaging shows muscle atrophy and fatty replacement

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

•

en:hypotonia (in some patients)

•

en:hypotonia, mild (1 patient)

•

en:hypothenar muscle atrophy

•

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

•

en:hypoplasia of supraspinatus muscle

•

en:hypoactive gag reflex

•

en:hyporeflexia

•

en:hyperactive deep tendon reflexes

•

en:dystrophic changes

•

en:distal muscle atrophy, predominantly lower limbs

•

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

•

en:distal muscle weakness, lower legs

•

en:distal muscle atrophy due to neuropathy

•

•

en:exercise-induced muscle stiffness

•

en:fiber necrosis

•

en:fibromyalgia

•

en:generalized neonatal hypotonia

•

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle weakness, predominantly proximal

•

en:muscle wasting in lower limbs

•

en:muscle wasting (especially legs and arms)

•

en:muscle hypertrophy may occur

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows lipid deposition

•

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

•

en:mild atrophy of the proximal lower limbs

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle atrophy (variable)

•

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

•

en:muscle atrophy, limb-girdle and proximal

•

•

en:multi-core congenital myopathy

•

en:mri shows increased connective tissue and fat

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:minicores extend full fiber diameter

•

en:lower limb muscle atrophy

•

en:myoclonic spasms

•

en:ragged-red muscle fibers

•

en:myopathy with abnormal lipid metabolism

•

en:relative muscle weakness, especially in pelvic girdle

•

en:muscle soft, tissue

•

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

•

en:weak extraocular muscles

•

en:virtually no active movement at birth (wws)

•

en:umbilical hernia

•

en:small atrophic muscle fibers

•

en:shortening of various muscle-tendon groups in legs

•

en:rimmed vacuoles on biopsy

•

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

•

en:ragged red fibers (in some patients)

•

en:nemaline rods (in some patients)

•

en:protein aggregates immunopositive for actin and desmin

•

en:progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy

•

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

•

en:poor muscle build

•

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

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:no muscle weakness

•

en:normal respiratory chain studies seen on muscle biopsy

•

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

•

en:loss of ambulation

•

en:emg shows increased insertion activity and fibrillation

•

en:limb-girdle muscle atrophy

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

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

•

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

•

en:distal muscle atrophy, lower legs

•

en:degeneration of junctional folds

•

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

•

en:decreased mitochondria

•

en:decreased activity of mitochondrial complexes i and iv

•

en:cox-negative fibers seen on muscle biopsy

•

•

en:edema of lower extremity

•

en:calf muscle discomfort

•

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

•

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

•

en:attacks last 4 to 24 hours

•

en:atrophic muscle fibers

•

en:areflexia of lower limbs

•

en:apoptotic nuclei

•

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

•

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

•

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

•

en:endplate abnormalities

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:hyporeflexia or areflexia

•

en:infantile axial hypotonia

•

en:increased glycogen

•

en:increased fat and fibrous tissue

•

en:inclusion body myopathy

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotonia (families a and b)

•

en:hypotonia (45%)

•

en:hypotonia, severe, neonatal

•

en:hypotonia, axial, severe

•

en:hyporeflexia in affected muscles

•

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

•

en:hang weakness

•

en:hamstring and quadriceps muscles mildly affected

•

en:gowers sign (in some patients)

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:gastrocnemius and soleus muscles most affected

•

en:flaccid neck

•

en:fat pad anterior to malleolus

•

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

•

en:abnormal jitter seen on emg

•

en:abnormal subcutaneous fat tissue distribution

•

en:acetazolamide may worsen symptoms

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness (type i)

•

en:muscle weakness, distal (in some patients)

•

en:muscle paralysis, episodic

•

en:muscle hyperirritability

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle coenzyme q deficiency

•

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

•

en:myotonia is present in majority of cases

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle atrophy (type i)

•

en:muscle atrophy (1 patient)

•

en:mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:merosin-positive biopsy

•

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

•

en:lymphedema of lower limbs (in some patients)

•

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

•

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

•

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

•

•

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

•

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

•

en:welander distal myopathy

•

en:wide variation in fiber size

•

en:tubular aggregates mainly in type 1 fibers

•

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

•

en:thigh hypertrophy

•

en:superior rectus atrophy

•

en:skeletal muscle shows dystrophic changes

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:neurogenic changes seen on emg

•

en:reduced lower limb subcutaneous fat

•

en:ragged red fibers seen on biopsy

•

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

•

en:proximal muscle weakness, mild

•

en:proximal limb muscle weakness (occurs later)

•

en:prominent involvement of the biceps brachii muscles

•

en:prolonged endplate currents

•

en:pain or cramping during sustained manual activity

•

en:no facial muscle involvement

•

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

•

en:usually a unilateral disorder

•

en:limb weakness, proximal followed by distal

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

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

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased or absent ankle reflexes

•

en:decreased muscle mass

•

en:decreased mitochondrial respiratory complexes i and iv

•

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

•

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

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:distal lower limb muscle weakness

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:complex v deficiency

•

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

•

en:chronic weakness

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:calf muscle enlargement

•

en:calf hypertrophy (early in the disease)

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:lack of antigravity movements (patient b)

•

en:degenerating nerve terminals

•

en:calf hypertrophy (uncommon)

•

en:distal muscle weakness, mild

•

en:generalized muscle contractions, episodic

•

en:emg shows denervation

•

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

•

en:infantile muscular hypotonia

•

en:inability to jump or squat

•

en:hypotonia (cvs+)

•

en:hyporeflexia of lower limbs

•

en:hangrip myotonia

•

en:hamstring muscle affected

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:inclusions are tdp43-immunoreactive

•

en:fat pad between achilles tendon and medial malleolus

•

en:enlarged nuclei with central pallor

•

en:fatty infiltration of affected muscles

•

en:emg shows myopathic and neurogenic changes

•

en:emg shows high-frequency spontaneous discharges

•

en:emg shows myopathic pattern

•

en:eosinophilic inclusions

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:facial edema

•

en:fasciculations (in some patients)

•

en:muscle cramps may affect jaw muscles

•

en:muscle cramps at rest

•

en:muscle cramp

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows neurogenic angulated fibers

•

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

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:mitochondrial complex iii deficiency (disorder)

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle atrophy (in some patients)

•

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

•

en:mitochondrial dna depletion, severe

•

en:mild weakness

•

en:mild muscle weakness

•

en:marked muscular hypertrophy

•

en:mallory-like bodies

•

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

•

en:lymphangiectasia

•

en:muscle pain and cramps following exercise

•

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

•

en:muscle wasting, progressive

•

en:prolonged achr channel opening episodes

•

en:reduced muscle mass

•

en:lower and upper limbs affected

•

en:quadriceps atrophy

•

en:proximal muscle weakness (occasional)

•

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

•

en:proximal muscle weakness, limb-girdle distribution

•

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

•

en:prominent musculature

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:muscle weakness, limb-girdle, mild

•

en:panniculitis

•

en:neurogenic changes seen on emg and biopsy

•

en:myxedematous appearance

•

en:myotonic discharges

•

en:myopathic features seen on biopsy

•

en:myopathic changes seen on emg of affected muscle

•

en:muscle weakness usually does not occur

•

en:muscle weakness may affect upper limbs

•

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

•

en:lower limb muscle hypotrophy

•

en:distal muscles may be affected

•

en:lipid droplet accumulation

•

en:chronic neurogenic changes seen on emg

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decreased size of nerve terminals seen on muscle biopsy

•

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

•

en:decreased glycosylation of alpha-dystroglycan

•

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

•

en:decreased activity of respiratory complex i+iii

•

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

•

en:congophilic amyloid material

•

en:cellulitis due to immunodeficiency

•

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

•

en:calf hypertrophy (in some patients)

•

en:calcific tendinitis

•

en:bulbar weakness

•

en:attacks precipitated by rest after exercise

•

en:ascites (in some patients)

•

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

•

en:accelerated decay of the synaptic current

•

en:abnormal fat distribution

•

en:severe form shows absence of spontaneous activity at birth

•

en:deltoid muscle hypoplasia

•

en:distal amyotrophy (hands and feet)

•

en:increased muscle tone at birth

•

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

•

en:increased internal nuclei seen on muscle biopsy

•

en:inability to stand on tiptoes

•

en:inability to run

•

•

en:group fiber atrophy (in some patients)

•

en:frequent falls

•

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

•

•

en:finger and wrist extensor weakness

•

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

•

en:fatty infiltration seen on muscle biopsy

•

en:fatty infiltration

•

en:exercise intolerance (cvs+)

•

en:exercise-induced myalgia

•

en:emg may show myopathic features

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:electromyographic decrements in some muscles

•

en:edema at birth

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:repetitive response to single nerve stimulus

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:neonatal hypertonias

•

en:necrosis and degeneration seen on muscle biopsy

•

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

•

en:myopathic features seen on emg

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myofibril destruction (in some patients)

•

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

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle biopsy shows loss of type 2a fibers

•

en:paracrystalline inclusions

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows fiber type disproportion

•

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

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle atrophy, mild

•

en:multiple mitochondrial dna deletions

•

en:minicores or core-like regions may be present

•

en:loss of subcutaneous adipose tissue in limbs

•

en:loss of gluteal adipose tissue

•

en:normal muscle fiber (hcs)

•

en:pectoralis hypoplasia

•

en:independent walking may not be achieved

•

en:tubulofilamentous inclusions

•

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

•

en:z-disk streaming

•

en:wrist swelling

•

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

•

en:weakness of ankle plantar flexion

•

en:umbilical depression

•

en:type 1 muscle fiber predominance

•

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

•

en:trunk muscle atrophy

•

en:premature exertional muscle weakness

•

en:thenar amyotrophy (rare)

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:small round skeletal muscle fibers

•

en:skeletal muscle may show less severe mtdna deletion

•

en:shortening of flexor profundus muscle-tendon unit

•

en:severe disability within 20 years of onset

•

en:rupture of tendon

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:leg cramps may occur with exercise

•

en:pelvic girdle weakness and atrophy

•

en:increased visceral fat

•

en:variability in fiber size

•

en:centralized nuclei may be seen

•

en:buffalo hump (rare)

•

en:atrophy, mild (in some cases)

•

en:absence of telethonin protein

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:weakness and wasting of the lower limbs

•

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

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:cytoplasmic inclusion bodies (finding)

•

en:underdeveloped muscles (in some patients)

•

en:type 1 fiber predominance

•

en:swelling of the affected areas

•

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

•

en:soft tissue vascular malformations

•

en:small rounded fibers

•

en:small miniature endplate currents (mepc)

•

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

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:congophilic inclusions

•

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

•

en:decreased activity of complexes ii+iii

•

en:facial muscle atrophy of involved side

•

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

•

en:increased intraabdominal fat

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased echo intensity in affected muscles

•

en:hip abductor weakness and atrophy

•

en:gowers sign (patient a)

•

en:fragmented mitochondrial network

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:fat pads on the hands and feet

•

en:gait abnormalities (occurs later)

•

en:decreased activity of mitochondrial complex iii

•

en:endomysial fibrosis

•

en:electromyogram normal

•

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

•

en:degenerative changes with increased connective tissue

•

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

•

en:decreased exercise tolerance

•

en:extensive fatty infiltration on biopsy

•

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

•

en:hypotonia, profound

•

en:loss of ambulation (in some patients)

•

•

en:limb-girdle muscle weakness

•

en:increased fiber size variability

•

en:interosseus muscles involved

•

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

•

en:internal nuclei

•

en:increased endomysial connective tissue around muscle fibers

•

en:mtdna depletion seen on muscle biopsy

•

en:mitochondrial myopathies

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle atrophy in the limbs

•

en:muscle biopsy may show inflammatory changes

•

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

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:hypotonia, infantile, severe

•

en:hypotonia, neonatal (in some patients)

•

en:decreased muscle succinate dehydrogenase

•

en:hyaline inclusion

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:muscle fatigability

•

en:congenital myopathy (in one patient)

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased postsynaptic achr

•

en:deglutition disorders

•

en:diastasis recti

•

en:difficulty running

•

en:distal muscle weakness occurs later

•

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

•

en:edema, subcutaneous, generalized

•

en:head drop due to neck muscle weakness

•

en:emg shows reduction of voluntary recruitment

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:evidence of lymphatic rerouting

•

en:focal loss of cross- striations

•

en:frontalis muscle weakness

•

en:generalized muscle weakness, severe

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:gluteal hypoplasia

•

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

•

en:hand and foot weakness

•

en:muscle cramps during exercise

•

en:z-disks with abnormal homogeneous material

•

en:muscle weakness, hypokalemia-related

•

en:tremor of the upper limb

•

en:replacement of affected muscle tissue with fatty tissue

•

en:rhabdomyolysis, episodic and recurrent

•

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

•

en:secondary loss of sarcolemmal caveolin-3

•

en:shoulder muscle weakness (in some patients)

•

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

•

en:spontaneous muscle activity

•

en:structurally abnormal mitochondria

•

en:thenar muscle atrophy

•

en:thin musculature

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:rectus abdominis muscle separation

•

en:upper and/or lower limbs may be affected

•

en:variation of fiber size and shape

•

en:weakness of all intrinsic hand muscles (later)

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:necrotic process

•

en:ascending muscle weakness (beginning with feet and legs)

•

en:type 2 fiber atrophy see on biopsy

•

•

en:muscle twitch

•

fasciculation d'un muscle squelettique

•

en:relative sparing of the rectus femoris

•

en:ragged-red fibers seen on muscle biopsy

•

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

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:muscle weakness, proximal more than distal

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle weakness is not a feature

•

en:muscular appearance

•

en:muscular dystrophy (in some patients)

•

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

•

en:myopathy, mild

•

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

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:neck and proximal limb muscle myopathy

•

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

•

en:quadriceps atrophy (later onset)

•

en:normal phosphorylase kinase activity in muscle

•

en:paralysis of the lower limbs (later)

•

en:phagocytic vacuoles with degraded membranous material

•

en:plantar fibromatosis

•

en:plasma membrane discontinuities

•

en:presynaptic defect at the neuromuscular junction

•

en:progressive interictal weakness is common

•

en:progressive proximal muscle weakness

•

en:prominent muscular appearance

•

en:proximal muscles more often affected

•

en:proximal muscle weakness in upper limbs

•

en:calf muscle hypoplasia

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119139 • caches: c1=8 c2=1002 c3=1

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