Diko : en:loss of subcutaneous adipose tissue in limbs

en:loss of subcutaneous adipose tissue in limbs

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1837764

Associations d'idées

[F]

›

1000

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

•

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

•

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

•

en:congenital myopathy (in one patient)

•

en:facial edema

•

en:increased length of endplate regions seen on muscle biopsy

•

en:muscle rigidity

•

en:muscle weakness in forearm muscles

•

en:nemaline bodies occur in type 1 fibers

•

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

•

en:abnormal mitochondria

•

en:decreased numbers of achr seen on muscle biopsy

•

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

•

en:hypotonia, severe (patient b)

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:mild endplate myopathy

•

en:nemaline myopathy (in 1 reported male)

•

en:decreased complex i activity (rare)

•

en:infantile muscular hypotonia

•

en:scapuloperoneal amyotrophy

•

en:painful muscle cramps

•

en:myoclonic spasms

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:increased connective tissue and fat

•

en:decremental response to repetitive nerve stimulation

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:type 1 fiber predominance

•

en:toe and foot dorsiflexor weakness

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:axial muscle hyperextension, episodic

•

en:muscle biopsy shows centralized nuclei

•

en:positive staining for atpase activity at ph of 4.3

•

en:distal muscle weakness may occur

•

en:no muscle fiber necrosis

•

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

•

en:mri may show cervical spinal cord atrophy

•

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

•

en:minimal muscle mass

•

en:loss of independent ambulation around age 12 years

•

en:limb muscular atrophy

•

en:attacks relieved by potassium administration

•

en:calf muscle weakness

•

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

•

en:dysarthria

•

en:emg shows myopathic pattern

•

en:fibromyalgia

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle fibers may contain abnormal polysaccharide

•

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

•

en:type 1 fiber atrophy

•

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

•

en:exercise capacity decreased

•

en:minicores (in some)

•

en:peripheral edema

•

en:small endplate

•

en:transient neonatal hypotonia (less common)

•

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

•

en:increased muscle tone in the lower limbs

•

en:increased falls

•

en:inability to sit or hold head up

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:buffalo hump (rare)

•

en:decreased achr

•

en:casq1-immunopositive inclusions

•

en:calf hypertrophy (less common)

•

en:anterior tibial muscles first involved

•

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

•

en:loss of gluteal adipose tissue

•

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

•

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

•

en:fasciculations (less common)

•

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

•

en:toe-walking gait

•

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

•

en:increased glycogen

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:dystrophic changes, mild, seen on muscle biopsy

•

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

•

en:decreased muscle density on imaging

•

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

•

en:weakness and wasting of the lower limbs

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:slim, muscular build (in some patients)

•

en:emg shows myopathic and neurogenic changes

•

en:forearm muscle weakness

•

en:increased internal nuclei

•

en:muscle atrophy appears later in disease course

•

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

•

en:myopathy

•

en:poor muscle build

•

en:marked muscular hypertrophy

•

en:attacks last 4 to 24 hours

•

en:decreased muscle mass (predominantly in lower extremities)

•

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

•

en:easy fatigability

•

en:generalized muscular appearance from birth

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:motor clumsiness

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:plantar fibromatosis

•

en:swelling of the extremities, episodic

•

en:a subset of patients develop bilateral weakness

•

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

•

en:involves upper and lower proximal muscles

•

en:mild atrophy of the proximal lower limbs

•

en:normal neonatal period may occur before weakness is apparent

•

en:other mitochondrial complex enzyme activities may also be decreased

•

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

•

en:abnormal subcutaneous fat tissue distribution

•

en:emg shows increased insertion activity and fibrillation

•

en:thenar amyotrophy (rare)

•

en:thenar muscle atrophy

•

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

•

en:upper and/or lower limbs may be affected

•

en:degenerating fibers

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:skeletal muscle damage

•

en:prolonged endplate potentials

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:generalized hypotonia

•

en:limb-girdle muscle weakness (2 families)

•

en:hyporeflexia of lower limbs

•

en:hernia

•

en:emg shows neurogenic changes consistent with denervation

•

en:atrophy of neck muscles may occur later

•

en:atrophy, neurogenic muscular

•

en:distal limb muscle atrophy (less common)

•

en:rhabdomyolysis with exercise (in older patients)

•

en:increased centralized internal nuclei

•

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

•

en:muscle biopsy shows type i fiber predominance

•

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

•

en:muscular dystrophy (in some patients)

•

en:neck and proximal limb muscle myopathy

•

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

•

en:small round skeletal muscle fibers

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:variation of fiber size and shape

•

en:increased centralized nuclei

•

en:muscle fiber splitting (in some patients)

•

en:muscle biopsy shows grouped atrophy

•

en:dorsal and flexor muscles of the forearm are involved

•

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

•

en:axial muscle weakness

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle hypertonia

•

en:electron microscopy showed z-disk streaming

•

en:weakness worsened by activity

•

en:rhabdomyolysis, episodic and recurrent

•

en:uterine muscle may be stiff during pregnancy

•

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

•

en:type ii fiber predominance

•

en:rectus medial atrophy

•

en:neonatal hypertonias

•

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

•

en:lipoatrophic appearance

•

en:myopathic and neurogenic changes seen on emg

•

en:muscle biopsy shows small rounded fibers

•

en:myofibrillar myopathy

•

en:myalgia (in some patients)

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle fiber immaturity

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle cramps at rest

•

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

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:vacuolar myopathy

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscles have a woody consistency on palpation

•

en:mitochondrial dna depletion (in some)

•

en:mitochondrial dna deletions (in some patients)

•

en:minimal subcutaneous fat

•

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

•

en:lack of integrin alpha-7 staining

•

en:normal or increased facial adipose tissue

•

en:neurogenic changes later in disease seen on emg

•

en:reduced ankle dorsiflexion

•

en:no staining for oxidative enzymes

•

en:recovery between attacks

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:sparing of small hand and finger muscles

•

en:small rounded fibers

•

en:small nerve terminals

•

en:severe form shows absence of spontaneous activity at birth

•

en:scapular muscle atrophy

•

en:ring fibers

•

en:replacement of myofibers with connective tissue

•

en:intranuclear inclusions (1 family)

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:proximal muscle weakness

•

en:protein aggregates immunopositive for actin and desmin

•

en:prominent musculature

•

en:progressive loss of facial adipose tissue

•

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

•

en:progression to proximal muscle weakness

•

en:preserved nerve terminals seen on muscle biopsy

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:pectoralis major hypoplasia

•

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

•

en:lack of antigravity movements (patient b)

•

en:fiber necrosis

•

en:interosseus muscles involved

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:decreased muscle mass in the thighs

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased coenzyme q10 content

•

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

•

en:cox-negative fibers

•

en:cores contain densely packed myofilaments

•

en:contractures of distal lower limbs

•

en:chronic weakness

•

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

•

en:atrophy of anterior compartment tibial muscles

•

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

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:angulated atrophic fibers

•

en:anasarca

•

en:amyotrophy (1 patient)

•

en:adiposis on mri

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:abnormal jitter seen on emg

•

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

•

en:decreased postsynaptic achr

•

en:delayed ambulation

•

en:internal nuclei

•

en:gait unsteady

•

en:increased visceral fat

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased focal mitochondrial density

•

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

•

en:imaging shows muscle atrophy and fatty replacement

•

en:hypotonia (cvs+)

•

en:hip abductor weakness and atrophy

•

en:hematomas, recurrent large subcutaneous

•

en:generalized muscle weakness, particularly affecting the limbs

•

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

•

en:deposits immunoreactive to beta-amyloid protein

•

en:fiber type variation

•

en:fat pad between achilles tendon and medial malleolus

•

en:fatigue

•

en:evidence of lymphatic rerouting

•

en:distal muscle weakness in lower limbs, severe

•

en:distal muscle weakness and atrophy

•

en:distal muscle weakness

•

en:distal muscle atrophy (1 patient)

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:diastasis recti

•

en:upper limb muscle hypoplasia

•

en:decreased cytochrome c oxidase activity

•

en:vacuoles are autophagocytic

•

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

•

en:normal or decreased facial and neck adipose tissue

•

en:nonspecific muscle fiber atrophy

•

en:myopathy seen on emg

•

en:myogenic changes seen on emg

•

en:myofibril destruction (in some patients)

•

en:muscular stiffness

•

en:muscle weakness trunk

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle cramps, painful, recurrent

•

en:muscle atrophy (1 patient)

•

en:no staining for periodic acid schiff (pas)

•

en:muscle atrophy, diffuse, severe

•

en:multiple mitochondrial dna deletions

•

en:mitochondrial myopathies

•

en:mitochondrial dna deletion (1 patient)

•

en:minicores or core-like regions may be present

•

en:lipoatrophy of trunk

•

en:leg edema

•

en:internal nuclei seen on muscle biopsy

•

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

•

en:increased muscle tone at birth

•

en:normal phosphorylase kinase activity in muscle

•

en:predominance of oxidative fibers

•

en:imaging shows progressive fatty infiltration of muscle

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:z-disk degeneration

•

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

•

en:weakness of all intrinsic hand muscles (later)

•

en:vacuoles in the myofiber cytoplasm

•

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

•

en:type 1 fiber atrophy seen on muscle biopsy

•

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

•

en:tubular aggregates seen on biopsy

•

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

•

en:shoulder muscle weakness (in some patients)

•

en:prolonged endplate currents

•

en:severe disability within 20 years of onset

•

en:secondary loss of sarcolemmal caveolin-3

•

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

•

en:rimmed vacuoles

•

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

•

en:rectus abdominis muscle separation

•

en:proximal muscle weakness (120270.0002)

•

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

•

en:proximal muscle weakness, lower limbs, mild

•

en:proximal and distal muscle atrophy

•

en:increased internal nuclei (in some patients)

•

en:normal or increased facial and neck adipose tissue

•

en:hypotonia (families a and b)

•

en:atrophy of type i fibers

•

en:congophilic eosinophilic inclusions

•

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

•

en:cold sensitivity has been reported

•

en:cervical muscle weakness

•

en:calf muscle pseudohypertrophy

•

en:calcific tendinitis

•

en:biopsy shows myopathic and dystrophic changes

•

en:biopsy muscle normal

•

en:bilateral facial weakness (congenital form)

•

en:biceps aplasia

•

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

•

en:decreased activity of respiratory complex i+iii

•

en:atrophic fibers

•

en:ascites (in some patients)

•

en:ankle reflex absent

•

en:angular fibers (in some patients)

•

en:abnormal z bands

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal fat distribution

•

en:hypotonia, severe, neonatal

•

en:abnormally long mitochondria seen on muscle biopsy

•

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

•

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

•

en:biopsy shows defects in pyruvate oxidation

•

en:dystrophic changes occur later

•

en:distal limb muscle weakness (less common)

•

en:flaccid neck

•

en:fatty degeneration of muscle seen on mri

•

en:facial muscle weakness and atrophy, progressive

•

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

•

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

•

en:emg shows myopathy

•

en:glycogen accumulation seen on biopsy

•

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

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy, lower legs

•

en:distal amyotrophy (hands and feet)

•

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

•

en:difficulty running and jumping

•

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

•

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

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

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

•

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

•

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

•

en:generalized muscle weakness, proximal and distal

•

en:neck flexor weakness

•

en:muscle weakness following prolonged exercise

•

en:myopathic features seen on biopsy

•

en:myotonic discharges

•

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

•

en:neurogenic atrophy

•

en:percussion myotonias

•

en:polyglucosan accumulation

•

en:muscle weakness, episodic

•

en:poor development of the postsynaptic membrane

•

en:muscle weakness, primarily proximal

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle pain (in some patients)

•

en:muscle hypertrophy (meb)

•

en:muscle fatigue

•

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

•

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

•

en:muscle biopsy shows angular atrophic fibers with granulovacuolar material (in some patients)

•

en:muscle atrophy, upper and lower limbs

•

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

•

en:mri shows increased connective tissue and fat

•

en:proximal muscle atrophy (in some patients)

•

en:proximal amyotrophy

•

en:abnormal sarcoplasmic reticulum elements

•

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

•

en:variation of myofiber diameter

•

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

•

en:angioedema

•

en:absence of collagen vi immunostaining

•

en:abnormal mitochondrial proliferation

•

en:abnormal fiber size variation

•

en:abnormal fatigue

•

en:abnormal aggregation of mitochondria

•

en:z-disks with abnormal homogeneous material

•

en:weakness

•

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

•

en:variation in skeletal muscle fiber diameter

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:underdeveloped muscles (in some patients)

•

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

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:scapuloperoneal weakness

•

en:sarcoplasmic inclusions

•

en:reduced subcutaneous adipose tissue

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:ragged red fibers (in some patients)

•

en:ragged-red muscle fibers

•

en:quadriceps muscle spared

•

en:mri shows fatty infiltration of affected muscles

•

en:angular atrophic fibers

•

en:motor delay

•

en:decreased activity of respiratory complex ii+iii

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:distal limb muscle weakness, lower more than upper

•

en:distal limb muscle atrophy, lower more than upper

•

en:disruption of sarcomeres with disorganization of the z band

•

en:difficulty walking up stairs

•

en:degenerative changes with increased connective tissue

•

en:degenerating junctional folds

•

en:degenerate mitochondrial on em

•

en:decreased muscle mass (in some patients)

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:cytochrome-c oxidase deficiency

•

en:dystrophic changes seen on skeletal muscle biopsy

•

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

•

en:cellulitis in lower limbs, recurrent

•

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

•

en:attacks precipitated by potassium

•

en:atrophy of shins

•

en:atrophy, mild (in some cases)

•

en:ankle edema (finding)

•

en:amyotrophy, distal, upper and lower limbs

•

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

•

en:muscle soft, tissue

•

en:atrophic

•

en:distal muscle weakness, lower legs

•

en:emg shows high-frequency spontaneous discharges

•

en:mitochondrial swelling

•

en:increased connective tissue

•

en:mild weakness

•

en:mallory-like bodies

•

en:lymphedema (lower limb)

•

en:loss of subcutaneous fat, generalized

•

en:loss of ambulation (in some patients)

•

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

•

en:limb weakness, proximal followed by distal

•

en:inguinal hernia

•

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

•

en:increased fatty infiltration

•

en:increased adipose fibrosis

•

en:emg shows myotonic changes

•

en:hypotonia, severe, persistent

•

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

•

en:haemorrhage subcutaneous

•

en:granular deposits in the sarcomeres

•

en:gowers sign (patient a)

•

en:gowers sign

•

en:gluteal hypoplasia

•

en:generalized limb muscle atrophy

•

en:filamentous inclusions in muscle fibers

•

en:fat accumulation in the suprabuttock area

•

en:fatty replacement

•

en:angulated atrophic muscle fibers

•

en:muscle biopsy shows type 1 fiber predominance

•

en:attacks of weakness

•

en:muscle weakness associated with fasting or infection

•

en:pectoralis hypoplasia

•

en:paralysis of the lower limbs (later)

•

en:pain or cramping during sustained manual activity

•

en:numerous vacuole-like areas

•

en:neurogenic changes

•

en:neck muscle hypoplasia

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myopathic changes seen on biopsy

•

en:myokymia

•

en:muscle weakness and atrophy

•

en:preserved heel standing

•

en:muscle weakness (1 patient)

•

en:muscle weakness

•

en:muscle fibers contain internal nuclei

•

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 fiber type disproportion

•

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

•

en:muscle biopsy may show inflammatory changes

•

en:muscle atrophy affecting the upper back and neck muscles

•

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

•

en:mitochondrial complex i deficiency

•

en:peroneal muscle weakness

•

en:proximal limb muscle weakness (occurs later)

•

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

•

en:some abnormal aggregation of mitochondria

•

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

•

en:weak extraocular muscles

•

en:ubiquinone decreased

•

en:type 1 muscle fiber predominance

•

en:tubular aggregates in muscle fibers may occur

•

en:thickened subcutaneous tissue

•

en:tetanus-like muscle contractions

•

en:tendinous and tuberous xanthoma

•

en:superior rectus atrophy

•

en:spasm

•

en:small atrophic fibers (in some patients)

•

en:quadriceps atrophy (later onset)

•

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

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:shoulder weakness and atrophy

•

en:shortening of flexor profundus muscle-tendon unit

•

en:rupture of tendon

•

en:rounded, atrophic fibers (family a)

•

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

•

en:repetitive response to single nerve stimulation

•

en:relative sparing of the rectus femoris

•

en:reduced lower limb subcutaneous fat

•

en:rare necrotic fibers

•

en:lymphedema, dorsa of feet

•

en:short and thickened z-discs

•

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

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:dystrophic changes seen on muscle biopsy

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

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

•

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

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:difficulty standing

•

en:difficulty climbing stairs, jumping, running

•

en:delayed motor development (cvs+)

•

en:degenerative features seen on muscle biopsy

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:edema at birth

•

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

•

en:decreased muscle mitochondrial aconitase

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased coenzyme q10

•

en:decreased adipose tissue around neck

•

en:decreased achilles reflex

•

en:cytochrome c oxidase-negative fibers

•

en:contractures of upper limbs (in some patients)

•

en:clumsiness

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:lower limb atrophy

•

en:edematous hands and feet (1 patient)

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:endplate abnormalities

•

en:hypotonia, generalized (in some patients)

•

en:loose connective tissue

•

en:exercise-induced myalgia

•

en:limb-girdle muscle atrophy

•

en:intracellular granular osmiophilic deposits

•

en:increased variation in muscle fiber diameter

•

en:increased variability in muscle fiber diameter

•

en:increased fat and fibrous tissue

•

en:increased central nucleation

•

en:impaired toe-walking

•

en:hypotrophic type 2 muscle fibers

•

en:hypotonia, neonatal, severe (hcs)

•

en:increased muscle glycogen content

•

en:hypoplasia of the hand muscles (29%)

•

en:gluteus maximus and thigh adductors most affected

•

en:hypertonia late

•

en:fiber type variation seen on biopsy

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:generalized muscle weakness

•

en:gowers sign (in some patients)

•

en:gowers sign present

•

en:hypertonia at birth

•

en:fibrous dysplasia (rare)

•

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

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:necrotic and regenerating fibers

•

en:nemaline bodies are rarely intranuclear

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness begins proximally

•

en:muscle hypotonia

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, proximal and distal

•

en:muscle pain with exercise (in older patients)

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows myofibrillar disruption

•

en:no ragged-red fibers

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle biopsy shows myofiber degeneration

•

en:no lipodystrophy in face and neck

•

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

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:reduced muscle tone

•

en:tetany

•

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

•

en:subcutaneous edema

•

en:some patients become wheelchair-dependent

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:sarcomere disappearance seen on muscle biopsy

•

en:rigidity (uncommon)

•

en:reduced miniature endplate potential (mepp) amplitude

•

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

•

en:proximal muscle weakness (85% of patients)

•

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

•

en:proximal limb muscle weakness initially

•

en:prominent involvement of the quadriceps femoris muscles

•

en:prolonged achr channel opening episodes

•

en:progressive distal and proximal symmetric limb weakness

•

en:postexercise cmap amplitude facilitation

•

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

•

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

•

en:muscle atrophy (variable)

•

en:decreased activity of complexes ii+iii

•

en:disorganized myofilaments seen on muscle biopsy

•

en:difficulty walking and climbing stairs (patient a)

•

en:decreased quantal release

•

en:decreased muscle succinate dehydrogenase

•

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

•

en:decreased collagen vi

•

en:decreased activity of mitochondrial complex iii

•

en:biceps brachii atrophy

•

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

•

en:atrophic calf muscles

•

en:angulated fibers

•

en:adhalin deficiency seen on muscle biopsy

•

en:absence of telethonin protein

•

en:absence of myotonia in infancy (congenital form)

•

en:abnormalities in myofibril organization

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:distal amyotrophy

•

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

•

en:muscle

•

en:increased muscle tone (early in life)

•

en:mitochondrial dna depletion, severe

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:marked variability of fiber size

•

en:marked lack of adipose tissue

•

en:lymphedema, hands (rare)

•

en:isolated necrotic fibers

•

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

•

en:increased echo intensity in affected muscles

•

en:electromyography shows myotonic discharges

•

en:hypertonicity (uncommon)

•

en:generalized muscle weakness, severe

•

en:frontalis muscle weakness

•

en:fibrillation

•

en:fiber size variation seen on muscle biopsy

•

en:exercise-induced muscle cramps

•

en:emg may show neurogenic changes

•

en:triceps aplasia

•

en:decreased muscle bulk

•

en:'sloping' shoulders due to muscle atrophy

•

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

•

en:muscle weakness, particularly of the lower limbs

•

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

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle biopsy shows mild dystrophic changes

•

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

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscular fasciculation

•

en:muscle aches, cramps

•

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

•

en:mri shows fatty replacement

•

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

•

en:mild decrease in mitochondrial respiratory chain activity

•

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

•

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

•

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

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

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

•

en:spontaneous muscle activity

•

en:winged scapula

•

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

•

en:variation in fibrodiameter seen on muscle biopsy

•

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

•

en:triceps weakness

•

en:tortuous lymphatic tracts

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:shortening of various muscle-tendon groups in feet

•

en:neurogenic abnormalities seen on emg

•

en:repetitive action potentials in response to single nerve stimulation

•

en:quadriceps aplasia

•

en:proximal muscle weakness occurs later

•

en:preserved junctional structure seen on muscle biopsy

•

en:polymyositis

•

en:normal muscle fiber (hcs)

•

en:nonspecific myopathy seen on biopsy

•

en:lower limbs more affected than upper limbs

•

en:muscle weakness increases with age

•

en:limb weakness and atrophy

•

en:calf pseudohypertrophy rare

•

en:distal muscle atrophy due to neurologic disease

•

en:distal leg muscle atrophy

•

en:difficulty walking, running

•

en:difficulty raising arms

•

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

•

en:cores extend along length of muscle fiber

•

en:chronic denervation/reinnervation seen on emg

•

en:calf hypertrophy (reported in 1 family)

•

en:enlarged mitochondria

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

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

•

en:atrophic muscle fibers

•

en:acquired partial lipodystrophy

•

en:limb-girdle muscular dystrophy

•

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

•

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

•

en:easy fatigue

•

en:degeneration of junctional folds

•

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

•

en:hypotrophy of type 1 fibers

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:internal nuclei (in some patients)

•

en:infantile axial hypotonia

•

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

•

en:increased perisarcolemmal calcium deposition

•

en:large lipid droplets

•

en:increased endo- and perimysial connective tissue

•

en:increased lysosomal glycogen

•

en:hypertonicity of the lower limbs

•

en:humeroperoneal weakness and atrophy

•

en:global muscle weakness

•

en:fibrillations in affected muscles

•

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

•

en:fatty infiltration seen on muscle biopsy

•

en:exercise intolerance (patient a)

•

en:pelvic girdle muscle atrophy

•

en:potassium sensitivity has been reported

•

en:no dystrophic changes

•

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

•

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

•

en:myopathy with abnormal lipid metabolism

•

en:myasthenias

•

en:muscular hypotonia of the trunk

•

en:mitochondrial complex iii deficiency (disorder)

•

en:muscle weakness and atrophy, proximal

•

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

•

en:muscle weakness, variable

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle aches, intermittent

•

en:mitochondria show paracrystalline inclusions

•

en:mildly decreased cytochrome c oxidase activity

•

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

•

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

•

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

•

en:mandibuloacral dysplasia with type a lipodystrophy

•

en:quadriceps atrophy

•

en:type 2 fiber hypertrophy

•

en:lymphedema

•

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

•

en:abdominal wall muscle weakness (later onset)

•

en:weakness of anterior compartment tibial muscles

•

en:virtually no active movement at birth (wws)

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:swelling of the hands and feet, episodic

•

en:red-ragged fibers (2p21del)

•

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

•

en:small miniature endplate currents (mepc)

•

en:small atrophic muscle fibers

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

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

•

en:shoulder girdle muscle atrophy

•

en:repetitive response to single nerve stimulus

•

en:redundancy of basal lamina with accumulated debris

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:aggregates contain granular electron-dense material

•

en:lower limb muscle atrophy

•

en:cox-deficient fibers

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased muscle mass

•

en:decreased distal reflexes

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:cytoplasmic inclusion bodies (finding)

•

en:calf hypertrophy (uncommon)

•

en:disorganization of the myofibrillar pattern

•

en:biopsy shows myopathy without vacuoles

•

en:biopsy shows dystrophic changes

•

en:bilateral foot drop

•

en:atrophy of the lower leg muscles

•

en:atrophic fibers seen on biopsy

•

en:absence of gamma-sarcoglycan protein

•

en:abnormal muscle tone

•

en:alimentary edema

•

en:difficulty rising from a squatting position

•

en:distal muscle atrophy due to neuropathy

•

en:lipid droplets seen on muscle biopsy

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:limb-girdle muscle weakness

•

en:increased variability of fiber size seen on muscle biopsy

•

en:hypotonia from birth to age 12

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

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

•

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

•

en:flaccid weakness or paralysis, episodic attacks

•

en:distal myopathy (in 1 family)

•

en:fat pads on the hands and feet

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:emg shows fibrillations

•

en:emg may showed myotonic discharges

•

en:electromyogram normal

•

en:edema (hands and feet)

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:dystrophic changes

•

en:absence of some scapular muscles (less common)

•

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

•

en:atrophy of the intrinsic foot and hand muscles

•

en:muscle pain following exercise (in some patients)

•

en:no rods

•

en:normal or increased adipose tissue around the neck

•

en:myofibrillar disintegration

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness (cvs+)

•

en:muscle weakness, hypokalemia-related

•

en:muscle cramps affect the upper and lower limbs

•

en:painful swelling in aponeuroses

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

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

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows loss of type 2a fibers

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

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

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mild weakness of the small hand muscles

•

en:onset of weakness in hands and feet

•

en:patchy muscle fiber degeneration

•

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

•

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

•

en:atrophy of the thenar and hypothenar muscles

•

en:weakness of neck muscles may occur later

•

en:waddling gait

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

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

•

en:umbilical depression

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:plasma membrane discontinuities

•

en:skeletal muscle may show less severe mtdna deletion

•

en:rhabdomyolysis

•

en:reduced subcutaneous fatty tissue

•

en:ragged red fibers seen on biopsy

•

en:proximal muscle weakness, less severe

•

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

•

en:progression to wheelchair in fourth decade

•

en:poor musculature

•

en:mild variability in muscle fiber size

•

en:pseudohypertrophy of muscle

•

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

•

en:decreased activity of mitochondrial complex i

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

en:denervation of skeletal muscles

•

en:decreased thiamine pyrophosphate

•

en:decreased mitochondrial respiratory activities (in some patients)

•

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

•

en:decreased endplate potential and amplitudes

•

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

•

en:dystrophic features

•

en:congophilic staining

•

en:congenital fiber type disproportion

•

en:congenital, nonprogressive myopathy

•

en:centralized nuclei, rare

•

en:calf muscle discomfort

•

en:calf hypertrophy (in some patients)

•

en:loss of ambulation

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

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

•

en:decreased achr at the endplate

•

en:electromyographic decrements in some muscles

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:lipomas or lipomatous masses (most cases)

•

en:loss of achr

•

en:emg may show myopathic features

•

en:limb hypertonia

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:increased lipid

•

en:increased fibrosis

•

en:increased numbers of type 1 fibers

•

en:inclusions are dnajb6-immunoreactive

•

en:gait, drop foot

•

en:hypotonia (patient b)

•

en:hypotonia, neonatal and later

•

en:hyporeflexia in affected muscles

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:emg shows myopathic changes

•

en:floppy infant syndrome

•

en:edema, generalized

•

en:disuse atrophy

•

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

•

en:distal muscles may be affected

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:distal lower limb anterior compartment weakness

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:degenerating mitochondria

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:decreased secondary clefts

•

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

•

en:edema of dorsum of hands and feet

•

en:foot-drop

•

en:emg shows neurogenic changes

•

en:exercise-induced muscle fatigue

•

en:exertional leg pain

•

en:facial diplegia

•

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

•

en:fiber-type grouping pattern

•

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

•

en:foot extensor muscle weakness (later onset)

•

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

•

en:gait abnormality

•

en:hand muscle atrophy

•

en:decreased lipoic acid

•

en:hyaline plaques with absent oxidative activity

•

en:decreased mitochondria

•

en:truncal hypotonia (family a)

•

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

•

en:variability in fiber size

•

en:hypotonia (45%)

•

en:severely decreased or absent lamp2 protein

•

en:shortened open channel duration

•

en:shoulder weakness

•

en:signs of denervation seen on biopsy

•

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

•

en:superficial rerouting of lymph through the skin

•

en:tenderness of lower extremities

•

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

•

en:tubular aggregates seen on muscle biopsy

•

en:type 2 muscle fiber atrophy

•

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

•

en:wide variation in fiber size

•

en:decreased coenzyme q10 levels in muscle

•

en:loss of facial adipose tissue

•

en:accumulation of abnormal mitochondria

•

en:amyotrophy, neurogenic

•

en:ankle clonus

•

en:attacks usually decrease or disappear after age 40 years

•

en:autophagosome

•

en:axial weakness

•

en:bulbar weakness

•

en:centrally located nuclei seen on muscle biopsy

•

en:cox-negative fibers seen on muscle biopsy

•

en:decreased ability to run

•

en:decreased atp production

•

en:hypotonia, axial, severe

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:increased connective tissue (in some patients)

•

en:z-band streaming

•

en:quadriceps weakness

•

en:ragged-red fibers seen on muscle biopsy

•

en:reduced postsynaptic cleft area

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:severe muscle hypotonia at birth

•

en:symmetrical muscle wasting

•

en:thin musculature

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:type 2 fiber predominance

•

en:usually a unilateral disorder

•

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

•

en:z-line streaming see on electron microscopy

•

en:prominent muscular appearance

•

en:familial partial lipodystrophy, type 2

•

en:necrotic change

•

fibrillation

•

en:increased glycogen in muscle

•

dysphagie

•

fasciculation musculaire

•

cou de bison

•

empâtement de la nuque et du cou

•

en:wide-based gait

•

ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose

•

en:distal upper limb amyotrophy

•

en:water thesaurismosis

•

en:proximal muscles more often affected

•

en:non-pitting edema

•

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

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:lipid droplet accumulation

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

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

•

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

•

en:mitochondrial paracrystalline inclusion bodies

•

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

•

en:muscle atrophy, primarily in the legs

•

en:muscle atrophy, severe

•

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

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

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

•

en:muscle hyperirritability

•

en:neurogenic changes seen on emg

•

en:muscle hypertrophy in affected area

•

en:muscle pain (less common)

•

en:muscle paralysis, episodic

•

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

•

en:muscular dystrophy

•

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

•

en:myalgia with febrile episodes (rare)

•

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

•

en:myopathic features seen on emg

•

en:myopathy (rare)

•

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

•

en:nemaline rods (rare)

•

en:secondary myopathic changes

◀

Génériques

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en:loss

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118409 • caches: c1=28 c2=1057 c3=37

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