Diko : en:cellulitis or infection may occur

en:cellulitis or infection may occur

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1835231

Associations d'idées

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1000

en:proximal muscle weakness, limb-girdle distribution

•

en:muscle aches, cramps

•

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

•

en:biceps aplasia

•

en:centralized nuclei may be seen

•

en:decreased quantal release

•

en:distal lower limb amyotrophy

•

en:fatty replacement

•

en:mri shows fatty replacement

•

en:distal muscle weakness, upper and lower limbs

•

en:myogenic changes seen on emg

•

en:frequent falls

•

en:pectoralis hypoplasia

•

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

•

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

•

en:atrophy of upper girdle muscles

•

en:atrophy, mild (in some cases)

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:decreased achr at the endplate

•

en:ankle clonus

•

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

•

en:distal amyotrophy

•

en:distal muscle weakness, mild

•

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

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:stiffness (uncommon)

•

en:attacks may present during or after sleep

•

en:lack of integrin alpha-7 staining

•

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

•

en:myopathic features seen on biopsy

•

en:percussion myotonias

•

en:myotonia

•

en:neck flexor weakness

•

en:ragged red fibers (in some patients)

•

en:mild atrophy of the proximal lower limbs

•

en:facial diplegia

•

en:decreased muscle density on imaging

•

en:decreased complex i activity (rare)

•

en:limb lymphedema (in some patients)

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:degenerative changes with increased connective tissue

•

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

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:increased falls

•

en:internal nuclei

•

en:large hypertrophied fibers

•

en:muscle atrophy, mild

•

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

•

en:distal muscle weakness, affecting the lower limbs

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:generalized muscle weakness (less common)

•

en:muscle biopsy shows chronic and active denervation

•

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

•

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

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:nonspecific muscle fiber atrophy

•

en:muscle weakness (cvs+)

•

en:increased fatigue

•

en:increased echo intensity in affected muscles

•

en:attacks of weakness

•

en:foot dorsiflexor weakness

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:dystrophic changes may be present

•

en:abnormal subcutaneous fat tissue distribution

•

en:reduced muscle tone but normal power

•

en:numerous vacuole-like areas

•

en:velopharyngeal muscle weakness

•

en:some abnormal aggregation of mitochondria

•

en:generalized muscular appearance from birth

•

en:tetany

•

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

•

en:onset of lymphedema around puberty

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle amyotrophy

•

en:gait, drop foot

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:decreased lipoic acid

•

en:biopsy shows dystrophic changes

•

en:bilateral foot drop

•

en:arm/shoulder muscle hypoplasia

•

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

•

en:attacks precipitated by rest after exercise

•

en:hypotonia, neonatal (in some patients)

•

en:loss of gluteal adipose tissue

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:myopathic findings on biopsy have been occasionally reported

•

en:muscle weakness (type i)

•

en:normal or decreased facial and neck adipose tissue

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:toe-walking gait

•

en:hip flexor weakness

•

en:no ragged-red fibers

•

en:shoulder weakness and atrophy

•

en:edema reoccurs with infections

•

en:neck and proximal limb muscle myopathy

•

en:rhabdomyolysis

•

en:nemaline rods (rare)

•

en:decreased achilles reflex

•

en:scapuloperoneal amyotrophy

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:prominent musculature

•

en:group fiber atrophy (in some patients)

•

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

•

en:accumulation of abnormal mitochondria

•

en:decreased muscle mass (in some patients)

•

en:degenerate mitochondrial on em

•

en:degenerating nerve terminals

•

en:increased muscle lipid content

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle weakness (1 patient)

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myopathic changes seen on biopsy

•

en:ragged-red fibers seen on muscle biopsy

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

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

•

en:decreased activity of complex i and complex iv

•

en:decreased activity of mitochondrial complex i

•

en:difficulty standing

•

en:muscle weakness, predominantly proximal

•

en:muscle weakness, severe, diffuse

•

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

•

en:soft tissue or tendinous calcinosis may occur

•

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

•

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

•

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

•

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

•

en:cold sensitivity has been reported

•

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

•

en:fat accumulation in the suprabuttock area

•

en:exertional fatigue

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:tremor of the upper limb

•

en:sparing of small hand and finger muscles

•

en:cox-depleted fibers

•

en:facial muscle atrophy

•

en:lymphedema of lower extremity

•

en:muscle atrophy (variable)

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:pelvic girdle weakness

•

en:proximal limb muscle weakness initially

•

en:proximal muscle weakness in lower limbs

•

en:shoulder girdle weakness

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

en:muscle weakness, proximal greater than distal

•

en:muscle fibers contain internal nuclei

•

en:muscle wasting due to chronic denervation

•

en:muscle weakness, hypokalemia-related

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness, proximal more than distal

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness and atrophy

•

en:muscle biopsy shows loss of type 2a fibers

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle activity is electrically silent on emg

•

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

•

en:muscle biopsy shows dystrophic changes

•

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

•

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

•

en:muscle atrophy in the limbs

•

en:muscle weakness is not a feature

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mitochondrial paracrystalline inclusion bodies

•

en:mitochondrial complex i deficiency

•

en:minicores (in some)

•

en:mild endplate myopathy

•

en:muscle weakness increases with age

•

en:no facial muscle involvement

•

en:muscular fasciculation

•

en:quadriceps aplasia

•

en:small round skeletal muscle fibers

•

en:small atrophic fibers (in some patients)

•

en:skeletal muscle biopsy shows enlarged mitochondria with abnormal cristae decreased mitochondrial complex i activity

•

en:scattered necrotic fibers

•

en:rupture of tendon

•

en:rounded, atrophic fibers (family a)

•

en:repetitive response to single nerve stimulation

•

en:rectus medial atrophy

•

en:rare necrotic fibers

•

en:quadriceps atrophy (later onset)

•

en:proximal muscle weakness in upper limbs

•

en:myofibril destruction (in some patients)

•

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

•

en:prominent muscular appearance

•

en:progressive proximal muscle weakness

•

en:primary myopathic changes seen on emg

•

en:positive staining for atpase activity at ph of 4.3

•

en:peripheral edema

•

en:onset of weakness in hands and feet

•

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

•

en:normal lamp2 staining (309060)

•

en:neonatal hypertonias

•

en:myokymia

•

en:macroglossia

•

en:hypotonia (in some patients)

•

en:loss of ambulation (in some patients)

•

en:atrophy of type i fibers

•

en:delayed ambulation

•

en:decreased muscle bulk (in one patient)

•

en:decreased activity of respiratory complex ii+iii

•

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

•

en:decreased achr

•

en:cellulitis due to immunodeficiency

•

en:carpopedal spasm

•

en:calf muscle discomfort

•

en:bilateral facial weakness (congenital form)

•

en:autophagosome

•

en:atrophy of the intrinsic foot and hand muscles

•

en:depletion of mitochondrial dna

•

en:atrophy, neurogenic muscular

•

en:areflexia of lower limbs

•

en:ankle reflex absent

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:alimentary edema

•

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

•

en:accelerated decay of the synaptic current

•

en:abnormal sarcoplasmic reticulum elements

•

en:abnormal fatigue

•

en:upper limb involvement occurs later or not at all

•

en:denuded postsynaptic regions

•

en:difficulty running or inability to run

•

en:lipodystrophy (in some patients)

•

en:extensive fatty infiltration on biopsy

•

en:lipid droplets seen on muscle biopsy

•

en:inguinal hernia

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:hyperactive deep tendon reflexes

•

en:generalized limb muscle atrophy

•

en:flaccid weakness or paralysis, episodic attacks

•

en:filamentous inclusions in muscle fibers

•

en:fiber size variation seen on muscle biopsy

•

en:fatty infiltration of affected muscles

•

en:fatigue

•

en:exercise-induced muscle stiffness

•

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

•

en:eosinophilic inclusions

•

en:emg shows reduction of voluntary recruitment

•

en:emg shows myotonic changes

•

en:electromyogram normal

•

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

•

en:edema, subcutaneous, generalized

•

en:dystrophic changes on biopsy

•

en:distal muscle weakness in lower limbs, severe

•

en:distal muscle weakness, lower legs

•

en:distal muscle atrophy due to denervation

•

en:umbilical depression

•

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

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:muscle weakness and atrophy may be asymmetric

•

en:neurogenic atrophy

•

en:neonatal hypotonia

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:myopathy in approximately 45% of patients

•

en:myopathy

•

en:myopathic and neurogenic changes seen on emg

•

en:myofibromatosis

•

en:myofibrillar disorganization

•

en:myoclonic spasms

•

en:muscle weakness following prolonged exercise

•

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

•

en:no dystrophic changes

•

en:muscle fiber immaturity

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle biopsy shows atrophy

•

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

•

en:muscle atrophy appears later in disease course

•

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

•

en:mitochondrial myopathy, severe

•

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

•

en:no staining for oxidative enzymes

•

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

•

en:secondary myopathic changes

•

en:wide variation in fiber size

•

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

•

en:weakness of neck extensors (rare)

•

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

•

en:vacuolar myopathy

•

en:upper limb muscle hypoplasia

•

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

•

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

•

en:shoulder weakness

•

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

•

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

•

en:paradoxical myotonia (myotonia increases with exercise)

•

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

•

en:sarcomere disappearance seen on muscle biopsy

•

en:rhabdomyolysis may occur

•

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

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal and distal muscle atrophy in lower limbs

•

en:progressive distal and proximal symmetric limb weakness

•

en:postexercise cmap amplitude facilitation

•

en:pelvic girdle muscle atrophy

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

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

•

en:marked lack of adipose tissue

•

en:decreased muscle mitochondrial aconitase

•

en:edema of lower extremity

•

en:dystrophic changes seen on muscle biopsy

•

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

•

en:disorganization of the neuromuscular junction

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:denervation of skeletal muscles

•

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

•

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

•

en:decreased thiamine pyrophosphate

•

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

•

en:decreased atp production

•

en:electromyographic decrements in some muscles

•

en:congenital, nonprogressive myopathy

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

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

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:axial hypotonia (in some patients)

•

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

•

en:adhalin deficiency seen on muscle biopsy

•

en:absence of caveolin-3 staining

•

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

•

en:loss of subcutaneous fat

•

en:electromyogram abnormal

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:emg shows myopathic changes

•

en:hip girdle muscle weakness (usually presenting symptom)

•

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

•

en:limb-girdle muscle atrophy

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:increased variability in muscle fiber diameter

•

en:increased lipid

•

en:impaired heel-walking

•

en:hypotonia, severe (patient b)

•

en:hypoplasia of the hand muscles (29%)

•

en:limb-girdle muscular dystrophy

•

en:hemihypertrophy of right arm and leg (rare)

•

en:fatty infiltration seen on muscle biopsy

•

en:fatty degeneration of muscle seen on mri

•

en:hamstring and quadriceps muscles mildly affected

•

en:fatty infiltration

•

en:loss of facial adipose tissue

•

en:fiber type variation seen on biopsy

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:gowers sign (in some patients)

•

en:grip strength decreased

•

en:fibrous dysplasia (rare)

•

en:muscle fatigability

•

en:myopathic features seen on emg

•

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

•

en:muscle weakness trunk

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle strength and bulk is preserved

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle hypertrophy

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle cramps during exercise

•

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

•

en:muscle biopsy shows nemaline rods

•

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

•

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

•

en:multiple mitochondrial dna deletions

•

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

•

en:mri may show cervical spinal cord atrophy

•

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

•

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

•

en:mild muscular hypotonia

•

en:muscle biopsy shows mild dystrophic changes

•

en:severe disability within 20 years of onset

•

en:normal phosphorylase kinase activity in muscle

•

en:some patients never achieve ambulation

•

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

•

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

•

en:type 2 fiber predominance

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:tubulofilamentous inclusions

•

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

•

en:thin musculature

•

en:tendinous and tuberous xanthoma

•

en:superior rectus atrophy

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:plantar fibromatosis

•

en:shortening of flexor profundus muscle-tendon unit

•

en:scapular muscle weakness

•

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

•

en:respiratory distress (congenital form)

•

en:replacement of affected muscle tissue with fatty tissue

•

en:reduced muscle bulk

•

en:prominent involvement of the biceps brachii muscles

•

en:progressive muscle weakness

•

en:progression to wheelchair in fourth decade

•

en:preserved heel standing

•

en:lymphedema of the hands (in some patients)

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:lymphangitis, episodic

•

en:congophilic inclusions

•

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

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased or absent ankle reflexes

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased levels and activity of 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 activities of mitochondrial-encoded respiratory chain complexes

•

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

•

en:congenital myopathy (in one patient)

•

en:denervation seen on emg

•

en:calf pseudohypertrophy rare

•

en:biopsy shows defects in pyruvate oxidation

•

en:axial weakness

•

en:atrophic muscle fibers

•

en:angulated atrophic muscle fibers

•

en:acute rhabdomyolysis

•

en:absence of some scapular muscles (less common)

•

en:absence of muscle pseudohypertrophy

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:z-disk degeneration

•

en:deglutition disorders

•

en:difficulty in toe walking

•

en:lipoatrophy

•

en:generalized muscle wasting

•

en:lipid accumulation in muscle tissue

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased fiber size variability

•

en:increased connective tissue

•

en:inclusions are tdp43-immunoreactive

•

en:inability to jump or squat

•

en:hyporeflexia of lower limbs

•

en:hypoplasia of infraspinatus muscle

•

en:gait abnormalities (occurs later)

•

en:difficulty running

•

en:frontalis muscle weakness

•

en:fiber size variation (in some patients)

•

en:fat pads on the hands and feet

•

en:facial muscle atrophy of involved side

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:emg shows myopathic and neurogenic changes

•

en:emg shows fibrillations

•

en:emg consistent with chronic neurogenic disorder

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:distal muscle weakness

•

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

•

en:lymphedema, dorsa of feet

•

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

•

en:myofibroma (in 1 patient)

•

en:primarily affects lower limbs

•

en:preserved nerve terminals seen on muscle biopsy

•

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

•

en:poor muscle build

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:pectoralis major hypoplasia

•

en:panniculitis

•

en:neuropathic process seen on muscle biopsy

•

en:nemaline rods may be observed

•

en:muscular hypotonia of the trunk

•

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

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, symmetric, proximal, lower limbs

•

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

•

en:muscle wasting in lower limbs

•

en:muscle spasticity

•

en:muscle rigidity

•

en:muscle cramps may affect jaw muscles

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows ragged red fibers

•

en:progression to proximal muscle weakness

•

en:prolonged endplate potentials

•

en:muscle biopsy shows myofibrillar disruption

•

en:soft fleshy palms (50%)

•

en:absence of merosin in muscle

•

en:virtually no active movement at birth (wws)

•

en:usually no myopathic changes on biopsy

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:thick palmar fascia

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:tendon tears

•

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

•

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

•

en:skeletal muscle damage

•

en:protein aggregates immunopositive for actin and desmin

•

en:severely decreased or absent lamp2 protein

•

en:scapular muscle atrophy

•

en:sarcoplasmic inclusions

•

en:retroperitoneal fibrosis (rare)

•

en:redundancy of basal lamina with accumulated debris

•

en:reduced muscle tone

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:red-ragged fibers (2p21del)

•

en:ragged-red muscle fibers

•

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

•

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

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:muscle biopsy shows grouped atrophy

•

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

•

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

•

en:foot extensor muscle weakness (later onset)

•

en:flaccid neck

•

en:exercise intolerance (cvs+)

•

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

•

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

•

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

•

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

•

en:easy fatigue

•

en:easy fatigability

•

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

•

en:hypertonia at birth

•

en:delayed motor development (cvs+)

•

en:decreased adipose tissue around neck

•

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

•

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

•

en:centralized nuclei, rare

•

en:atrophy of type 1 and type 2 fibers

•

en:atrophic muscle fiber on biopsy

•

en:anterior tibial muscles first involved

•

en:acetazolamide may worsen symptoms

•

en:muscle biopsy shows dystrophic features

•

en:gowers sign present

•

en:congophilic amyloid material

•

en:hyporeflexia in affected muscles

•

en:loss of ambulation between third and sixth decade

•

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

•

en:hypotonia at birth

•

en:muscle atrophy, limb-girdle and proximal

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mildly increased mtdna

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:lymphedema, hands (rare)

•

en:lower limb muscle hypotrophy

•

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

•

en:loss of sarcomeric striations

•

en:marked variability of fiber size

•

en:loss of ambulation

•

en:jitter

•

en:increased connective tissue and fat in muscles

•

en:increased fibrosis (in some patients)

•

en:inclusions are dnajb6-immunoreactive

•

en:inability to stand on tiptoes

•

en:internal nuclei (in some patients)

•

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

•

en:large lipid droplets

•

en:limb muscular atrophy

•

en:loss of achr

•

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

•

en:painful swelling in aponeuroses

•

en:normal sensation

•

en:nemaline rod formation

•

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

•

en:myopathy, mild

•

en:myasthenic syndrome (hcs)

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle weakness

•

en:muscle shows lipid accumulation

•

en:muscle hypertrophy of the lower extremities

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:premature exertional muscle weakness

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:poor exercise tolerance

•

en:type 2 muscle fiber predominance

•

en:proximal lower limb amyotrophy

•

en:vacuoles in the myofiber cytoplasm

•

en:amorphous granulofilamentous material associated with z-discs

•

en:loss of subcutaneous adipose tissue in limbs

•

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

•

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

•

en:widening of the synaptic cleft

•

en:walking may be limited

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:ubiquinone decreased

•

en:proximal muscle involvement may occur

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:smooth muscle may also become involved

•

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

•

en:skeletal myopathy

•

en:shoulder muscle weakness (in some patients)

•

en:relatively preserved limb strength

•

en:pseudohypertrophy of muscle

•

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

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:decreased muscle mass in the thighs

•

en:loss of antigravity strength

•

en:calf muscle hypertrophy

•

en:decreased postsynaptic achr

•

en:decreased distal reflexes

•

en:decreased activity of mitochondrial complex iii

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:cranial muscles spared

•

en:cores or minicores

•

en:cores contain densely packed myofilaments

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:difficulty walking

•

en:calcific tendinitis

•

en:biopsy shows myopathic and dystrophic changes

•

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

•

en:ascites (in some patients)

•

en:apoptotic nuclei

•

en:absence of collagen vi immunostaining

•

en:'sloping' shoulders due to muscle atrophy

•

en:areflexia due to muscle weakness

•

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

•

en:distal limb muscle atrophy, lower more than upper

•

en:loss of ability to walk in early childhood

•

en:inability to sit or hold head up

•

en:localized cellulitis

•

en:lipoma

•

en:limb-girdle muscle weakness

•

en:isolated necrotic fibers

•

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

•

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

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:imaging shows muscle atrophy and fatty replacement

•

en:distal muscle atrophy (1 patient)

•

en:hypoactive gag reflex

•

en:hematomas, recurrent large subcutaneous

•

en:glycogen deficiency in muscle fibers

•

en:gait unsteady

•

en:forearm muscle weakness

•

en:easy bruisability of lower extremities

•

en:distal myopathy (in 1 family)

•

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

•

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

•

en:decreased mitochondria

•

en:atrophy of the lower leg muscles

•

en:muscle weakness, primarily proximal

•

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

•

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

•

en:necrotic and regenerating fibers

•

en:necrosis

•

en:myopathic changes seen muscle biopsy

•

en:muscle weakness of proximal and distal upper and lower limbs

•

en:muscle weakness in forearm muscles

•

en:muscle wasting (especially legs and arms)

•

en:progressive loss of facial adipose tissue

•

en:muscle pain and cramps following exercise

•

en:muscle pain after exercise

•

en:muscle hypertrophy may occur

•

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

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

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

•

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

•

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

•

en:no muscle weakness

•

en:quadriceps atrophy

•

en:mitochondrial complex iii deficiency (disorder)

•

en:tubular aggregates seen on muscle biopsy

•

en:wrist swelling

•

en:autophagic rimmed vacuoles

•

en:weakness

•

en:walking delay

•

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

•

en:vacuolar degeneration

•

en:umbilical cord bleeding

•

en:transient neonatal hypotonia (less common)

•

en:ragged-red fibers on muscle biopsy

•

en:toe and foot dorsiflexor weakness

•

en:thickening of fascia of forearm

•

en:tenderness of lower extremities

•

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

•

en:small miniature endplate currents (mepc)

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:signs of denervation seen on biopsy

•

en:rectus fascia separation

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:normal or increased abdominal adipose tissue

•

en:mildly decreased cytochrome c oxidase activity

•

en:distal limb muscle atrophy (less common)

•

en:emg shows polyphasic continuous motor unit discharges

•

en:emg shows fasciculations

•

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

•

en:edema of dorsum of hands and feet

•

en:edema at birth

•

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

•

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

•

en:disruption of the m-line

•

en:exercise capacity decreased

•

en:difficulty climbing stairs, jumping, running

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:decremental muscle response to repetitive nerve stimulation

•

en:cox-negative fibers seen on muscle biopsy

•

en:contractures of upper limbs (in some patients)

•

en:lymphedema (lower limb)

•

en:cellulitis in lower limbs, recurrent

•

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

•

en:exercise-induced muscle fatigue

•

en:distal muscle atrophy due to neurologic disease

•

en:fiber-type grouping pattern

•

en:hypotonia (patient b)

•

en:lipid droplet accumulation

•

en:limb hypertonia

•

en:leg edema

•

en:increased muscle glycogen content

•

en:increased internal nuclei seen on muscle biopsy

•

en:lipomas or lipomatous masses (most cases)

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotrophy of type 1 fibers

•

en:increased fatigability

•

en:hypotonia, neonatal, severe (hcs)

•

en:generalized muscle hypertrophy

•

en:hypertonia late

•

en:hand muscle atrophy

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:glycogen depletion in skeletal muscle

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized weakness (adult-onset)

•

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

•

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

•

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

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle paralysis, episodic

•

en:muscle fiber necrosis

•

en:muscle biopsy shows abnormal mitochondria

•

en:loss of subcutaneous fat, diffuse

•

en:muscles do not contract upon electrical stimulation

•

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

•

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

•

en:minipolymyoclonus

•

en:minicores or core-like regions may be present

•

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

•

en:levator palpebrae superioris atrophy

•

en:lipodystrophy

•

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

•

en:muscle stiffness (in older patients)

•

en:shortened open achr channel duration

•

en:muscle weakness, mainly proximal and axial

•

en:preserved junctional structure seen on muscle biopsy

•

en:increased variation in fiber size seen on muscle biopsy

•

en:small or absent axon terminals

•

en:short and thickened z-discs

•

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

•

en:rhabdomyolysis, episodic and recurrent

•

en:relative sparing of the rectus femoris

•

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

•

en:progressive distal muscle weakness

•

en:positive staining for slow myosin heavy chain

•

en:muscle weakness, particularly of the lower limbs

•

en:polymyositis

•

en:pena-shokeir syndrome type i

•

en:painful adipose tissue

•

en:no staining for periodic acid schiff (pas)

•

en:neurogenic changes

•

en:nemaline myopathy (in 1 reported male)

•

en:nemaline bodies

•

en:myositis (in some patients)

•

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

•

en:infantile muscular hypotonia

•

en:attacks last 4 to 24 hours

•

en:increased mitochondria seen on muscle biopsy

•

en:decreased shank muscle mass

•

en:distal muscle weakness and atrophy

•

en:distal muscle wasting, mild

•

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

•

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

•

en:distal limb muscle weakness and atrophy

•

en:distal limb muscle weakness, lower more than upper

•

en:disorganization of the myofibrillar pattern

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased numbers of achr

•

en:dystrophic changes

•

en:decreased muscle mass

•

en:calf atrophy (later onset)

•

en:biopsy muscle normal

•

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

•

en:atrophic fibers

•

en:angioedema

•

en:abnormal z bands

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:distal muscle weakness occurs later

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:increased fibrosis (family a)

•

en:hypoplasia of supraspinatus muscle

•

en:increased fatty infiltration

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased connective tissue and fat

•

en:increased centralized nuclei

•

en:hypotrophy of the small hand muscles

•

en:hypotonia (2 patients)

•

en:hypotonia, mild (1 patient)

•

en:hypothenar muscle atrophy

•

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

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:granular deposits in the sarcomeres

•

en:giant granules in muscle cells

•

en:generalized amyoplasia

•

en:fragmented mitochondrial network

•

en:fiber necrosis

•

en:facial edema

•

en:endomysial fibrosis

•

en:edema is present at birth and then slowly decreases

•

en:edema

•

en:thenar muscle atrophy

•

en:small rounded fibers

•

en:type ii fiber predominance

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle weakness begins proximally

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle weakness, congenital

•

en:muscle hypertrophy (meb)

•

en:muscle fiber splitting (in some patients)

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows pleomorphic hyaline, granular, and amorphous deposits that stain with gomori trichrome

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:mri shows increased connective tissue and fat

•

en:myogenic profile on electromyography

•

en:mitochondrial swelling

•

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

•

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

•

en:lipoatrophic appearance

•

en:lipid and glycogen accumulation

•

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

•

en:intracellular granular osmiophilic deposits

•

en:inflammatory cells absent

•

en:muscle weakness is predominantly of extremities and tongue

•

en:nerve conduction studies normal

•

en:increased mitochondria with abnormal cristae

•

en:subsarcolemmal mitochondrial aggregates

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:z-disk streaming

•

en:z-disks with abnormal homogeneous material

•

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

•

en:weakness worsened by activity

•

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

•

en:triceps aplasia

•

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

•

en:soft tissue vascular malformations

•

en:nonspecific myopathic changes

•

en:rupture of muscle

•

en:reduced subcutaneous adipose tissue

•

en:recovery between attacks

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:proximal muscle atrophy (in some patients)

•

en:proximal muscles may be mildly affected

•

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

•

en:progressive proximal muscle involvement

•

en:other mitochondrial complex enzyme activities may also be decreased

•

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

•

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

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:atrophic fibers seen on biopsy

•

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

•

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

•

en:decreased activity of mitochondrial complexes i and iv

•

en:decreased activities of complexes i and iv

•

en:decreased ability to run

•

en:congophilic eosinophilic inclusions

•

en:chronic neurogenic changes seen on emg

•

en:central cores seen on muscle biopsy

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:decreased muscle mass (especially of limbs)

•

en:absence of pectoralis minor muscle

•

en:abnormal muscle tone

•

en:abnormal irregular myofibrillar network

•

en:abnormal distribution of subcutaneous fat

•

en:abnormal aggregates of desmin and filamin c

•

en:winged scapula

•

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

•

en:inclusion body myopathy

•

en:wasting of calf muscles (rare)

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:calf hypertrophy (less common)

•

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

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:hypotonia (patients a and c)

•

en:hypotonia (1 patient)

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:hypoplasia of serratus anterior muscle

•

en:hypoglycosylation of alpha-dystroglycan

•

en:hypertonicity of the lower limbs

•

en:global muscle weakness

•

en:enteroviral dermatomyositis syndrome

•

en:emg shows myopathy

•

en:fibrillations in affected muscles

•

en:distal muscle atrophy, lower legs

•

en:deltoid muscle hypoplasia

•

en:distal muscles may be affected

•

en:distal limb muscle weakness (less common)

•

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

•

en:difficulty walking, running

•

en:difficulty running and jumping

•

en:difficulty rising from chair

•

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

•

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

•

en:atrophic calf muscles

•

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

•

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

•

en:cores extend along length of muscle fiber

•

en:decreased coenzyme q10 levels in muscle

•

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

•

en:biopsy shows degenerative changes consistent with myopathy

•

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

•

en:degenerative features seen on muscle biopsy

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:exertional leg pain

•

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

•

en:difficulty walking and climbing stairs

•

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

•

en:distal limb muscle weakness due to peripheral neuropathy

•

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

•

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

•

en:emg shows neurogenic changes

•

en:exercise intolerance (patient a)

•

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

•

en:floppy infant syndrome

•

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

•

en:focal loss of cross striations seen on muscle biopsy

•

en:angulated atrophic fibers

•

en:proximal muscles more often affected

•

en:abnormal jitter seen on emg

•

en:small endplate

•

en:glycogen accumulation seen on biopsy

•

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

•

en:prolonged miniature endplate currents

•

en:prominent veins, lower limbs

•

en:proximal limb muscle weakness (occurs later)

•

en:quadriceps weakness

•

en:ragged red fibers seen on biopsy

•

en:reduced lower limb subcutaneous fat

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:severe muscular hypotonia

•

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

•

en:abnormal axons with sprouting and swelling

•

en:swelling of the extremities, episodic

•

en:thickened subcutaneous tissue

•

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

•

en:trunk muscle atrophy

•

en:tubular aggregates in muscle fibers may occur

•

en:tubular aggregates mainly in type 1 fibers

•

en:vacuolar myopathy may occur

•

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

•

en:variation of fiber size and shape

•

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

•

en:muscle soft, tissue

•

en:generalized amyotrophy

•

en:subcutaneous lipomatous tissue

•

en:humeroperoneal weakness and atrophy

•

en:severe form shows absence of spontaneous activity at birth

•

en:pharyngeal muscle weakness

•

en:potassium sensitivity has been reported

•

en:proximal muscle weakness

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:quadriceps muscle spared

•

en:reduced muscle mass

•

en:relative muscle weakness, especially in pelvic girdle

•

en:replacement of myofibers with connective tissue

•

en:rhabdomyolysis, episodic

•

en:rigidity (uncommon)

•

en:shortened open channel duration

•

en:patients achieve independent ambulation, but may lose it

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:some patients become wheelchair-dependent

•

en:subcutaneous edema

•

en:swelling of the affected areas

•

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

•

en:thenar eminence hypoplasia

•

en:tubular aggregates (in some patients)

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:type 1 fiber atrophy

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

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

•

en:painful swelling in fasciae

•

en:hypotonia (45%)

•

en:muscle atrophy, mild, more proximal than distal

•

en:increased fat and fibrous tissue

•

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

•

en:infantile axial hypotonia

•

en:loose connective tissue

•

en:loss of independent ambulation around age 12 years

•

en:lower limbs more often affected

•

en:low maximum workload on exercise testing

•

en:mitochondria show paracrystalline inclusions

•

en:muscle

•

en:muscles become hard and tender during exercise

•

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

•

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

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle cramps at rest

•

en:muscle hypertonia

•

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

•

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

•

en:muscle weakness, episodic

•

en:muscle weakness (in some patients)

•

en:myasthenias

•

en:myopathy, mild to severe

•

en:predominance of oxidative fibers

◀

Génériques

[F] [H]

›

en:cellulitis

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7117908 • caches: c1=20 c2=1165 c3=159

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