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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1838245

Associations d'idées

[F]

›

1000

en:type ii fiber predominance

•

en:facial paresis

•

en:severe disability within 20 years of onset

•

en:amyotrophy, neurogenic

•

en:difficulty climbing stairs, jumping, running

•

en:postexercise cmap amplitude facilitation

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:distal limb muscle atrophy, lower more than upper

•

en:focal loss of cross- striations

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:isolated necrotic fibers

•

en:muscle biopsy shows neurogenic atrophy

•

en:necrotic and regenerating muscle fibers

•

en:prolonged endplate currents

•

en:muscle fiber immaturity

•

en:absence of collagen vi immunostaining

•

en:absence of muscle pseudohypertrophy

•

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

•

en:exercise intolerance (cvs+)

•

en:jitter

•

en:hypoplasia of serratus anterior muscle

•

en:myopathy with abnormal lipid metabolism

•

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

•

en:necrotic and regenerating fibers

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:proximal weakness

•

en:contractures of distal lower limbs

•

en:difficulty in toe walking

•

en:scattered necrotic fibers

•

en:electromyogram abnormal

•

en:electromyographic decrements in some muscles

•

en:impaired toe-walking

•

en:pharyngeal muscle weakness

•

en:proximal muscle weakness (occasional)

•

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

•

en:decreased hand grip strength

•

en:hypotonia (untreated hypothyroidism)

•

en:positive staining for atpase activity at ph of 4.3

•

en:proximal muscle weakness occurs later

•

en:rare necrotic fibers

•

en:shoulder girdle weakness

•

en:biceps aplasia

•

en:cox-negative fibers seen on muscle biopsy

•

en:group fiber atrophy (in some patients)

•

en:loss of subcutaneous fat

•

en:mitochondrial dna deletions (in some patients)

•

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

•

en:myopathic changes early in disease seen on emg

•

en:ragged-red fibers on muscle biopsy

•

en:distal muscle weakness may occur

•

en:toe and foot dorsiflexor weakness

•

en:upper limb weakness

•

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

•

en:angulated fibers

•

en:decreased shank muscle mass

•

en:denervation

•

en:flaccid weakness or paralysis, episodic attacks

•

en:velopharyngeal muscle weakness

•

en:normal or decreased facial and neck adipose tissue

•

en:numerous vacuole-like areas

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:difficulty walking and climbing stairs

•

en:imaging shows progressive fatty infiltration of muscle

•

en:inclusion body myopathy

•

en:lower limb muscle atrophy

•

en:rupture of muscle

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:casq1-immunopositive inclusions

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:swelling of the hands and feet (in 1 patient)

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:uterine muscle may be stiff during pregnancy

•

en:'sloping' shoulders due to muscle atrophy

•

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

•

en:distal muscle weakness, predominantly lower limbs

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:gluteus maximus and thigh adductors most affected

•

en:hyaline plaques with absent oxidative activity

•

en:increased number of small endplates

•

en:low maximum workload on exercise testing

•

en:minicores extend full fiber diameter

•

en:widening of the synaptic cleft

•

en:difficulty running

•

en:difficulty walking up stairs

•

en:edema (hands and feet)

•

en:generalized muscle wasting

•

en:loss of ambulation (in some patients)

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

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

•

en:prolonged miniature endplate currents

•

en:respiratory distress (congenital form)

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:generalized weakness (adult-onset)

•

en:hypotonia (1 patient)

•

en:increased connective tissue and fat in muscles

•

en:marked variability of fiber size

•

en:muscle weakness and atrophy may be asymmetric

•

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

•

en:myopathy in approximately 45% of patients

•

en:sarcomere disappearance seen on muscle biopsy

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:congophilic deposits

•

en:gait abnormalities (occurs later)

•

en:reduced lower limb subcutaneous fat

•

en:skeletal muscle shows dystrophic changes

•

en:haemorrhage subcutaneous

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle fiber splitting (in some patients)

•

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

•

en:nonspecific myopathic changes

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:decreased mitochondrial complex v activity

•

en:distal atrophy of the legs

•

en:symptoms may be induced by heat

•

en:minicores (in some)

•

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

•

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

•

en:some abnormal aggregation of mitochondria

•

en:tubular aggregates seen on biopsy

•

en:normal dystrophin immunostaining

•

en:muscle weakness, proximal greater than distal

•

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

•

en:prominent musculature

•

en:neurogenic atrophy

•

en:potassium sensitivity has been reported

•

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

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:percussion myotonias

•

en:onset of lymphedema around puberty

•

en:no muscle weakness

•

en:normal neonatal period may occur before weakness is apparent

•

en:myalgia (in some patients)

•

en:nemaline bodies are rarely intranuclear

•

en:necrosis

•

en:myopathic features seen on biopsy

•

en:proximal muscle weakness, limb-girdle distribution

•

en:muscular dystrophy (in 1 of 3 patients)

•

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

•

en:muscle stiffness or aching

•

en:muscle pain after exercise

•

en:muscle hypertrophy (meb)

•

en:proximal muscles may be mildly affected

•

en:rhabdomyolysis may occur

•

en:reduced miniature endplate potential (mepp) amplitude

•

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

•

en:angular atrophic fibers

•

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

•

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

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:abnormal muscle tone

•

en:variability in fiber size

•

en:vacuoles are autophagocytic

•

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

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:tibialis anterior muscle affected

•

en:reduced muscle mass

•

en:subsarcolemmal mitochondrial aggregates

•

en:subcutaneous lipomatous tissue

•

en:subcutaneous edema

•

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

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:shoulder girdle muscle atrophy

•

en:rimmed vacuoles on biopsy

•

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

•

en:reduced subcutaneous adipose tissue

•

en:muscle hematoma

•

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

•

en:muscle biopsy shows ragged red fibers

•

en:decreased coenzyme q10 levels in muscle

•

en:disruption plasma membrane (in some patients)

•

en:disruption of the m-line

•

en:difficulty walking, running

•

en:difficulty running and jumping

•

en:delayed motor development (cvs+)

•

en:deep finger muscle weakness

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased density of calcium release units

•

en:decreased adipose tissue around neck

•

en:dystrophic changes seen on muscle biopsy

•

en:decreased achilles reflex

•

en:calf muscle pseudohypertrophy

•

en:atrophy, neurogenic muscular

•

en:atrophic

•

en:affected muscles show atrophy

•

en:abnormal sarcoplasmic reticulum elements

•

en:abnormal fat distribution

•

en:abnormal aggregation of mitochondria

•

en:ankle edema (finding)

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:edema, generalized

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:inability to run

•

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

•

en:mitochondria show paracrystalline inclusions

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:mildly increased mtdna

•

en:loss of sarcomeric striations

•

en:loss of ambulation

•

en:lipomas or lipomatous masses (most cases)

•

en:infantile axial hypotonia

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotonia at birth

•

en:emg shows chronic denervation

•

en:hypotonia (45%)

•

en:hypotonia, mild

•

en:hypotonia, axial, severe

•

en:hypoplasia of the hand muscles (29%)

•

en:gowers sign (in some patients)

•

en:gait, drop foot

•

en:fibrous dysplasia (rare)

•

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

•

en:exercise-induced myalgia

•

en:angulated atrophic fibers

•

en:degenerating junctional folds

•

en:arm/shoulder muscle hypoplasia

•

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

•

en:non-pitting edema

•

en:neonatal hypertonias

•

en:nemaline myopathy (in 1 reported male)

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:myopathy, mild

•

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

•

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

•

en:muscular fasciculation

•

en:muscle weakness, distal more than proximal

•

en:patchy muscle fiber degeneration

•

en:muscle paralysis, episodic

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle biopsy shows centralized nuclei

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:normal muscle fiber (hcs)

•

en:pectoralis hypoplasia

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:structurally abnormal mitochondria

•

en:wrist swelling

•

en:asymmetric muscle involvement

•

en:weakness of ankle plantar flexion

•

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

•

en:unable to walk

•

en:type 2 muscle fiber predominance

•

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

•

en:thickened subcutaneous tissue

•

en:tetanus-like muscle contractions

•

en:spontaneous muscle activity

•

en:primary myopathic changes seen on emg

•

en:some patients never achieve ambulation

•

en:shoulder weakness and atrophy

•

en:shortening of various muscle-tendon groups in feet

•

en:rimmed vacuoles with basophilic granular material

•

en:repetitive response to single nerve stimulation

•

en:repetitive action potentials in response to single nerve stimulation

•

en:ragged red fibers seen on biopsy

•

en:proximal muscle weakness in upper limbs

•

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

•

en:muscle atrophy, primarily in the legs

•

en:pain or cramping during sustained manual activity

•

en:muscle activity is electrically silent on emg

•

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

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:emg shows myopathic pattern

•

en:dystrophic changes may be present

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:distal muscle weakness, mild

•

en:distal muscle atrophy due to neuropathy

•

en:distal muscle atrophy, affecting the lower limbs

•

en:deposits immunoreactive to beta-amyloid protein

•

en:decreased numbers of achr

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:decreased muscle action potential after warming affected muscle

•

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

•

en:cox-negative fibers

•

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

•

en:chronic weakness

•

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

•

en:motor clumsiness

•

en:calf muscle hypoplasia

•

en:biopsy shows dystrophic changes

•

en:frontalis muscle weakness

•

en:disruption of sarcomeres with disorganization of the z band

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:increased fibrosis (family a)

•

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

•

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

•

en:gowers sign (patient a)

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of gluteal adipose tissue

•

en:loss of antigravity strength

•

en:limb-girdle muscle weakness

•

en:levator palpebrae superioris atrophy

•

en:increased lipid droplets and abnormal mitochondria

•

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

•

en:increased connective tissue

•

en:inability to jump or squat

•

en:hypotonia (cvs+)

•

en:hyporeflexia of lower limbs

•

en:hyporeflexia

•

en:increased falls

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:hand and foot weakness

•

en:hyaline inclusion

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:normal or increased abdominal adipose tissue

•

en:nerve conduction studies normal

•

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

•

en:painful muscle cramps

•

en:normal or increased facial adipose tissue

•

en:no staining for oxidative enzymes

•

en:myotonia

•

en:poor muscle build

•

en:neonatal edema (in some patients)

•

en:muscle biopsy shows neurogenic changes

•

en:myofibrillar disorganization

•

en:muscular atrophy

•

en:muscle weakness usually does not occur

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, predominantly proximal

•

en:muscle weakness, mild, proximal and distal

•

en:muscle hypotonia

•

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

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

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

•

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

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:ragged-red muscle fibers

•

en:subsarcolemmal lipofuscin-positive deposits

•

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

•

en:absence of merosin in muscle

•

en:z-disk degeneration

•

en:virtually no active movement at birth (wws)

•

en:umbilical cord bleeding

•

en:type 2 fiber hypertrophy

•

en:truncal hypotonia (family a)

•

en:tendon tears

•

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

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:retroperitoneal fibrosis (rare)

•

en:soft tissue vascular malformations

•

en:small rounded fibers

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:slim, muscular build (in some patients)

•

en:secondary myopathic changes

•

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

•

en:scapuloperoneal amyotrophy

•

en:sarcoplasmic inclusions

•

en:ring fibers

•

en:rhabdomyolysis (in some patients)

•

en:muscle biopsy shows myofiber degeneration

•

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

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:cox-depleted fibers

•

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

•

en:emg shows polyphasic continuous motor unit discharges

•

en:emg may show myopathic features

•

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

•

en:electron microscopy showed z-disk streaming

•

en:dystrophic features

•

en:distal leg muscle atrophy

•

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

•

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

•

en:congophilic amyloid material

•

en:facial muscle weakness and atrophy, progressive

•

en:cold sensitivity has been reported

•

en:bulbar weakness

•

en:axial weakness

•

en:attacks of weakness

•

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

•

en:absence of some scapular muscles (less common)

•

en:abnormal mitochondria

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:abdominal wall muscle weakness (later onset)

•

en:attacks relieved by potassium administration

•

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

•

en:fat pad anterior to malleolus

•

en:muscle

•

en:increased internal nuclei seen on muscle biopsy

•

en:multi-core congenital myopathy

•

en:mtdna deletions seen on muscle biopsy

•

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

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:marked lack of adipose tissue

•

en:lymphedema of the extremities

•

en:lymphangiectasia

•

en:increased perisarcolemmal calcium deposition

•

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

•

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

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:fiber-type variability

•

en:increased endomysial fibrosis

•

en:increased connective tissue (in some patients)

•

en:inability to stand on tiptoes

•

en:hypotonia (patients a and c)

•

en:hypotonia, neonatal, severe (hcs)

•

en:hypotonia, generalized (in some patients)

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypertonia late

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:floppy infant syndrome

•

en:amorphous granulofilamentous material associated with z-discs

•

en:acquired partial lipodystrophy

•

en:bilateral foot drop

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:poor musculature

•

en:poor exercise tolerance

•

en:peripheral edema

•

en:pelvic girdle weakness and atrophy

•

en:onset of weakness in hands and feet

•

en:no staining for periodic acid schiff (pas)

•

en:normal sensation

•

en:normal phosphorylase kinase activity in muscle

•

en:normal or increased facial and neck adipose tissue

•

en:nemaline rods (rare)

•

en:progressive proximal muscle weakness

•

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

•

en:myofibrillar lesions

•

en:myalgia with febrile episodes (rare)

•

en:muscular dystrophy

•

en:muscle weakness, proximal more than distal

•

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

•

en:muscle weakness, distal (in some patients)

•

en:muscle fibers contain internal nuclei

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle coenzyme q deficiency

•

en:premature exertional muscle weakness

•

en:prominent involvement of the biceps brachii muscles

•

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

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:biopsy shows myopathy without vacuoles

•

en:tibial muscular dystrophy

•

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

•

en:weakness worsened by activity

•

en:variation of fiber size and shape

•

en:vacuoles in the myofiber cytoplasm

•

en:usually a unilateral disorder

•

en:ubiquinone decreased

•

en:type 2 fiber predominance

•

en:swelling of the extremities, episodic

•

en:stiffness (uncommon)

•

en:proximal and distal muscle atrophy

•

en:sparing of anterior tibialis muscle

•

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

•

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

•

en:skeletal muscle may show less severe mtdna deletion

•

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

•

en:rhabdomyolysis, episodic and recurrent

•

en:reduced subcutaneous fatty tissue

•

en:quadriceps aplasia

•

en:proximal muscle weakness, less severe

•

en:proximal limb muscle weakness (occurs later)

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:z-disk streaming

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:disorganized myofilaments seen on muscle biopsy

•

en:endomysial fibrosis

•

en:emg - repetitive muscle discharges

•

en:electromyogram normal

•

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

•

en:distal muscle weakness, upper and lower limbs

•

en:distal muscle weakness

•

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

•

en:distal muscle atrophy due to denervation

•

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

•

en:denuded postsynaptic regions

•

en:histochemically normal type-ii muscle fibers

•

en:deglutition disorders

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased or absent ankle reflexes

•

en:decreased muscle mass (especially in lower limbs)

•

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

•

en:decreased distal reflexes

•

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

•

en:coenzyme q10 deficiency

•

en:buffalo hump (rare)

•

en:muscle biopsy shows lipid droplets

•

en:fatty deposition

•

en:cellulitis in lower limbs, recurrent

•

en:hyperactive deep tendon reflexes

•

en:loss of adipose tissue occurs around puberty

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

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 biopsy is immunopositive for merosin (156225)

•

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

•

en:merosin-positive biopsy

•

en:hypotonia, generalized, severe

•

en:macroglossia

•

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

•

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

•

en:lipodystrophy

•

en:increased echo intensity in affected muscles

•

en:hypotonia, profound

•

en:lipid droplets seen on muscle biopsy

•

en:inability to sit or hold head up

•

en:hypotonia, truncal and appendicular

•

en:increased focal mitochondrial density

•

en:increased visceral fat

•

en:infantile muscular hypotonia

•

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

•

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

•

en:muscle biopsy shows type 2 fiber atrophy

•

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

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

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

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

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

•

en:muscle amyotrophy

•

en:muscles have a woody consistency on palpation

•

en:mri shows fatty infiltration of affected muscles

•

en:limb muscle weakness, proximal, upper and lower

•

en:mitochondrial myopathy, severe

•

en:mitochondrial complex iii deficiency (disorder)

•

en:mild weakness

•

en:mild muscle weakness

•

en:mild atrophy of the proximal lower limbs

•

en:mildly decreased cytochrome c oxidase activity

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:lower limbs more often affected

•

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

•

en:lipid and glycogen accumulation

•

en:leg edema

•

en:muscle biopsy shows variation in fiber size

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:muscle pain and cramps following exercise

•

en:replacement of myofibers with connective tissue

•

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

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:stiffness

•

en:small atrophic muscle fibers

•

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

•

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

•

en:severely decreased or absent lamp2 protein

•

en:secondary loss of merosin and desmin

•

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

•

en:relative muscle weakness, especially in pelvic girdle

•

en:muscle weakness, variable

•

en:red-ragged fibers (2p21del)

•

en:progressive distal and proximal symmetric limb weakness

•

en:poor development of the postsynaptic membrane

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:normal or increased truncal adipose tissue

•

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

•

en:myotonia is usually not seen

•

en:myopathy

•

en:myofibromatosis

•

en:myalgia

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:increased muscle glycogen content

•

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

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased muscle density on imaging

•

en:decreased expression of the vdac1 protein

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:congophilic eosinophilic inclusions

•

en:cellulitis due to immunodeficiency

•

en:calf hypertrophy (in some patients)

•

en:biopsy muscle normal

•

en:attacks usually decrease or disappear after age 40 years

•

en:atrophy of neck muscles may occur later

•

en:decremental muscle response to repetitive nerve stimulation

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:atrophic muscle fibers

•

en:amyotrophy affects c5 to t1 myotomes

•

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

•

en:accumulation of abnormal mitochondria

•

en:accelerated decay of the synaptic current

•

en:abnormal subcutaneous fat tissue distribution

•

en:abnormal mitochondria with loss of cristae

•

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

•

en:decreased secondary clefts

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:increased fibrosis (in some patients)

•

en:generalized muscle weakness (less common)

•

en:increased endo- and perimysial connective tissue

•

en:increased centralized internal nuclei

•

en:inclusions are dnajb6-immunoreactive

•

en:hip flexor weakness

•

en:hang weakness

•

en:hand muscle atrophy

•

en:grip strength decreased

•

en:gowers sign present

•

en:glycogen accumulation seen on biopsy

•

en:fiber size variation

•

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

•

en:fatty infiltration seen on muscle biopsy

•

en:familial generalized lipodystrophy

•

en:facial muscle atrophy

•

en:emg shows myopathy

•

en:emg shows myopathic or neurogenic changes

•

en:edematous hands and feet (1 patient)

•

en:easily fatigued (finding)

•

en:disuse atrophy

•

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

•

en:distal muscle atrophy due to neurologic disease

•

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

•

en:upper limb involvement may occur later

•

en:type 1 fiber predominance

•

en:muscle weakness, mainly proximal and axial

•

en:painful swelling in aponeuroses

•

en:myopathic changes on pathology

•

en:myofibril destruction (in some patients)

•

en:myalgia, episodic

•

en:muscular appearance

•

en:muscle weakness trunk

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, severe, axial and proximal predominance

•

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

•

en:muscle fiber atrophy, profound (rare)

•

en:presynaptic defect at the neuromuscular junction

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle biopsy shows fiber type disproportion

•

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

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy in the limbs

•

en:mitochondria dna deletion

•

en:mild endplate myopathy

•

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

•

en:postsynaptic abnormalities

•

en:progressive distal muscle weakness

•

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

•

en:shoulder muscle hypoplasia

•

en:weakness of all intrinsic hand muscles (later)

•

en:type 2 muscle fiber atrophy

•

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

•

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

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:small miniature endplate potentials (mepp)

•

en:small endplate

•

en:small atrophic fibers (in some patients)

•

en:skeletal myopathy

•

en:severe muscular hypotonia

•

en:progressive interictal weakness is common

•

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

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rhabdomyolysis

•

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

•

en:reduced muscle strength (in some patients)

•

en:quadriceps atrophy (later onset)

•

en:pseudohypertrophy of muscle

•

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

•

en:proximal muscle weakness, lower limbs, mild

•

en:progressive muscle weakness

•

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

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:lower limbs more affected than upper limbs

•

en:attacks precipitated by potassium

•

en:cox-deficient fibers

•

en:congophilic inclusions

•

en:congenital muscular dystrophy (disorder)

•

en:congenital absence of gluteal muscles

•

en:chronic fatigable muscles

•

en:calf muscle weakness

•

en:calf hypertrophy (early in the disease)

•

en:loss of ability to walk in early childhood

•

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

•

en:atrophy, mild (in some cases)

•

en:decreased muscle mass

•

en:absence of caveolin-3 staining

•

en:abnormal distribution of subcutaneous fat

•

en:abnormal axons with sprouting and swelling

•

en:abnormal aggregates of desmin and filamin c

•

en:z-line streaming see on electron microscopy

•

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

•

en:weakness and wasting of the lower limbs

•

en:upper limb muscle hypoplasia

•

en:umbilical hernia

•

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

•

en:broad-based gait

•

en:decreased muscle mass in the thighs

•

en:hamstring muscle affected

•

en:limb-girdle muscle weakness (2 families)

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased variability of fiber size seen on muscle biopsy

•

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

•

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

•

en:hypotonia, infantile, severe

•

en:hypertonia in infancy

•

en:imaging shows muscle atrophy and fatty replacement

•

en:generalized muscle weakness, severe

•

en:electromyography shows myotonic discharges

•

en:distal limb muscle weakness and atrophy

•

en:forearm muscle weakness

•

en:distal lower limb muscle weakness

•

en:dystrophic skeletal muscle seen on biopsy

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:emg shows neurogenic changes consistent with denervation

•

en:emg shows reduction of voluntary recruitment

•

en:endplate myopathy

•

en:fiber size variation (in some patients)

•

en:myopathic and neurogenic changes seen on emg

•

en:patients achieve independent ambulation, but may lose it

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:no dystrophic changes

•

en:necrotic muscle fibers

•

en:necrotic changes (finding)

•

en:myxedematous appearance

•

en:myopathic pattern seen on emg

•

en:myopathic changes seen on emg

•

en:muscle atrophy (variable)

•

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

•

en:muscle weakness in forearm muscles

•

en:muscle weakness (hcs)

•

en:muscle weakness, severe, diffuse

•

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

•

en:muscle rigidity

•

en:muscle hypertrophy may occur

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle atrophy appears later in disease course

•

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

•

en:aggregates contain granular electron-dense material

•

en:poor sarcomeric structure (in some patients)

•

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

•

en:muscle atrophy, mild, more proximal than distal

•

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

•

en:'hanging' big toe

•

en:winged scapula

•

en:weakness of anterior compartment tibial muscles

•

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

•

en:variable fiber size

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:tubular aggregates (in some patients)

•

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

•

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

•

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

•

en:thickening of fascia of forearm

•

en:sparing of small hand and finger muscles

•

en:small type ii fibers

•

en:skeletal muscle biopsy shows dystrophic changes

•

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

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:proximal limb muscle weakness initially

•

en:progressive proximal muscle involvement

•

en:muscle atrophy, progressive

•

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

•

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

•

en:decreased activities of complexes i and iv

•

en:degenerating mitochondria

•

en:degenerating fibers

•

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

•

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

•

en:decreased postsynaptic length

•

en:decreased numbers of type 2b fibers

•

en:decreased cytochrome c oxidase activity

•

en:decreased complex i activity (rare)

•

en:decreased atp production

•

en:decreased achr at the endplate

•

en:difficulty raising arms

•

en:cervical muscle weakness

•

en:cellulitis or infection may occur

•

en:calf hypertrophy (reported in 1 family)

•

en:calf atrophy (later onset)

•

en:attacks last 4 to 24 hours

•

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

•

en:abnormal z bands

•

en:abnormal jitter

•

en:atrophic muscle fiber on biopsy

•

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

•

en:disorganization of the neuromuscular junction

•

en:lower and upper limbs affected

•

en:humeroperoneal weakness and atrophy

•

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

•

en:loss of achr

•

en:large lipid droplets

•

en:increased numbers of type 1 fibers

•

en:increased intramuscular fat

•

en:increased internal nuclei (in some patients)

•

en:increased fibrosis

•

en:increased central nucleation

•

en:impaired heel-walking

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

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

•

en:generalized muscle weakness, proximal and distal

•

en:foot-drop

•

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

•

en:fiber-type grouping pattern

•

en:emg shows myopathic changes

•

en:emg shows fibrillation potentials

•

en:edema at birth

•

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

•

en:distal muscle weakness, occurs initially

•

en:amyotrophy, distal, upper and lower limbs

•

en:tortuous lymphatic tracts

•

en:atrophy of anterior compartment tibial muscles

•

en:muscle stiffness (in older patients)

•

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

•

en:nonspecific myopathic changes seen on biopsy

•

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

•

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

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:muscle weakness lower limb

•

en:muscle weakness (1 patient)

•

en:muscle weakness, hypokalemia-related

•

en:muscle strength and bulk is preserved

•

en:muscle pain (less common)

•

en:no myofibrillar abnormalities or protein aggregation

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle fiber splitting

•

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

•

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

•

en:muscle biopsy shows dystrophic changes

•

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

•

en:muscle aches, cramps

•

en:mri shows fatty replacement

•

en:no facial muscle involvement

•

en:no rods

•

en:mitochondrial myopathies

•

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

•

en:biopsy shows degenerative changes consistent with myopathy

•

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

•

en:vacuolar myopathy may occur

•

en:tubular aggregates in muscle fibers may occur

•

en:subsarcolemmal mitochondrial accumulation

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:shortening of flexor profundus muscle-tendon unit

•

en:shortened open achr channel duration

•

en:secondary loss of sarcolemmal caveolin-3

•

en:replacement of affected muscle tissue with fatty tissue

•

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

•

en:reduced postsynaptic cleft area

•

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

•

en:proximal muscle weakness (120270.0002)

•

en:proximal muscle weakness, mild

•

en:proximal lower limb amyotrophy

•

en:prominent muscular appearance

•

en:poor head control in infancy

•

en:phagocytic vacuoles with degraded membranous material

•

en:peroneal muscle weakness

•

en:mri may show cervical spinal cord atrophy

•

en:pena-shokeir syndrome type i

•

en:minimal muscle mass

•

en:decremental response of compound muscle action potential on repetitive nerve stimulation

•

en:exertional fatigue

•

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

•

en:emg shows myopathic and neurogenic changes

•

en:emg shows fibrillations

•

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

•

en:distal muscle weakness occurs later

•

en:distal muscle weakness and atrophy

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:difficulty walking and climbing stairs (patient a)

•

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

•

en:fasciculations (in some patients)

•

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

•

en:decreased collagen vi

•

en:decreased activity of mitochondrial complex iii

•

en:decreased activity of complexes ii+iii

•

en:decreased achr

•

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

•

en:congenital myopathy (in one patient)

•

en:mild muscle atrophy in forearm muscles

•

en:centrally nucleated skeletal muscle fibers

•

en:facial muscle atrophy of involved side

•

en:difficulty walking

•

en:fatty replacement

•

en:increased fiber size variability

•

en:many fibers with internal nuclei

•

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

•

en:fiber size variation seen on muscle biopsy

•

en:lymphangitis, episodic

•

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

•

en:localized cellulitis

•

en:lipoma

•

en:involves upper and lower proximal muscles

•

en:increased muscle lipid content

•

en:increased mitochondria seen on muscle biopsy

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:immunoreactivity for z-disk proteins

•

en:hypotrophy of the small hand muscles

•

en:hematomas, recurrent large subcutaneous

•

en:head drop due to neck muscle weakness

•

en:hangrip myotonia

•

en:granular deposits in the sarcomeres

•

en:increased fatty infiltration

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:generalized limb muscle atrophy

•

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

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased muscle mass (in some patients)

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

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

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

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

•

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

•

en:calf hypertrophy (uncommon)

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:exercise-induced muscle stiffness

•

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

•

en:degenerating nerve terminals

•

en:difficulty rising from a squatting position

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

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

•

en:distal muscle atrophy, predominantly lower limbs

•

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

•

en:distal muscle weakness in lower limbs, severe

•

en:exercise intolerance (less common)

•

en:fragmented mitochondrial network

•

en:atrophy of the lower leg muscles

•

en:gluteal hypoplasia

•

en:atrophy of upper girdle muscles

•

en:polyglucosan accumulation

•

en:adhalin deficiency seen on muscle biopsy

•

en:reduced muscle tone

•

en:hypertonicity (uncommon)

•

en:painful swelling in fasciae

•

en:panniculitis

•

en:pelvic muscle involvement occurs later

•

en:peroneal muscle atrophy

•

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

•

en:proximal muscle atrophy (in some patients)

•

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

•

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

•

en:proximal muscle weakness (85% of patients)

•

en:reduced ankle dorsiflexion

•

en:rigidity (uncommon)

•

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

•

en:scapuloperoneal weakness

•

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

•

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

•

en:small miniature endplate currents (mepc)

•

en:swelling of the affected areas

•

en:transient neonatal hypotonia (less common)

•

en:type 1 fiber atrophy

•

en:vacuolar degeneration

•

en:abnormal irregular myofibrillar network

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:absence of pectoralis minor muscle

•

en:hernia

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:hypothenar muscle atrophy

•

en:rimmed vacuoles

•

en:myotonia seen on emg

•

en:necrosis and degeneration seen on muscle biopsy

•

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

•

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

•

en:plantar fibromatosis

•

en:positive staining for slow myosin heavy chain

•

en:predominance of oxidative fibers

•

en:prominent veins, lower limbs

•

en:proximal upper limb amyotrophy

•

en:relatively preserved limb strength

•

en:rhabdomyolysis with exercise (in older patients)

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:myopathic pattern on emg

•

en:skeletal muscle biopsy shows reducing bodies

•

en:small round skeletal muscle fibers

•

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

•

en:superior rectus atrophy

•

en:tendinous and tuberous xanthoma

•

en:toe-walking gait

•

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

•

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

•

atrophie

•

oedème de la face

•

oedème du visage

•

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

•

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

•

en:hypotonia (in some patients)

•

en:low muscle mass

•

en:hypotonia (patient a)

•

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

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

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

•

en:increased connective tissue and fat

•

en:increased fatigue

•

en:internal nuclei

•

en:limb-girdle myopathy

•

en:lipoatrophy

•

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

•

en:loss of subcutaneous fat, diffuse

•

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

•

en:myopathic changes seen on emg and muscle biopsy

•

en:mitochondrial dna deletion (1 patient)

•

en:mtdna depletion seen on muscle biopsy

•

en:muscle atrophy restricted to the upper limb

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle cramps during exercise

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle shows lipid accumulation

•

en:muscle weakness

•

en:muscle weakness and atrophy

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscular dystrophy (in some patients)

•

en:myogenic changes seen on emg

•

en:no lipodystrophy in face and neck

◀

Génériques

[F] [H]

›

en:weakness

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7120630 • caches: c1=40 c2=1444 c3=335

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