Diko : en:shoulder girdle muscle atrophy

en:shoulder girdle muscle atrophy

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1847766

Associations d'idées

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1000

en:walking delay

•

en:normal or increased abdominal adipose tissue

•

en:transient neonatal hypotonia (less common)

•

en:amyotrophy affects c5 to t1 myotomes

•

en:calf hypertrophy (in some patients)

•

en:cold sensitivity has been reported

•

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

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle weakness, mainly proximal

•

en:muscle weakness is predominantly of extremities and tongue

•

en:no ragged-red fibers

•

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

•

en:increased mitochondria seen on muscle biopsy

•

en:loss of subcutaneous fat, diffuse

•

en:lymphedema, dorsa of feet

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:mri may show cervical spinal cord atrophy

•

en:muscles do not contract upon electrical stimulation

•

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

•

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

•

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

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:internal nuclei seen on muscle biopsy

•

en:myopathic changes early in disease seen on emg

•

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

•

en:contractures of upper limbs (in some patients)

•

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

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:lipodystrophy (in some patients)

•

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

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

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

•

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

•

en:muscle biopsy shows type 1 fiber predominance

•

en:scapuloperoneal weakness

•

en:proximal muscle weakness, limb-girdle distribution

•

en:normal or increased facial adipose tissue

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:minimal subcutaneous fat

•

en:lipohypoplasia, regional

•

en:hypertonia late

•

en:dystrophic features seen on muscle biopsy

•

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

•

en:small round skeletal muscle fibers

•

en:waddling gait

•

en:weakness of neck muscles may occur later

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:normal muscle fiber (hcs)

•

en:coenzyme q10 deficiency

•

en:myopathic pattern on emg

•

en:muscle hypertrophy of the lower extremities

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:muscle atrophy, mild

•

en:loss of antigravity strength

•

en:emg shows myotonic changes

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:decreased hand grip strength

•

en:atrophy of anterior compartment tibial muscles

•

en:increased fibrosis

•

en:muscle biopsy shows inflammation with t cells

•

en:myoclonic spasms

•

en:poor head control

•

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

•

en:toe-walking gait

•

en:tremor of the upper limb

•

en:arm/shoulder muscle hypoplasia

•

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

•

en:attacks may present during or after sleep

•

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

•

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

•

en:myofibril destruction (in some patients)

•

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

•

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

•

en:upper limb weakness

•

en:decreased muscle bulk (in one patient)

•

en:decreased collagen vi

•

en:a subset of patients develop bilateral weakness

•

en:atrophy of the thenar and hypothenar muscles

•

en:decreased muscle bulk

•

en:exercise intolerance (cvs+)

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:increased muscle glycogen content

•

en:muscle weakness, predominantly proximal

•

en:reduced ankle dorsiflexion

•

en:thigh hypertrophy

•

en:contractures of distal lower limbs

•

en:emg shows fibrillations

•

en:generalized neonatal hypotonia

•

en:hypotonic

•

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

•

en:minicores or core-like regions may be present

•

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

•

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

•

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

•

en:emg may show myopathic features

•

en:muscle biopsy shows dystrophic features

•

en:hypoplasia of the hand muscles (29%)

•

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

•

en:angular fibers (in some patients)

•

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

•

en:decreased achilles reflex

•

en:apoptotic nuclei

•

en:calf and thigh cramping muscle pains

•

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

•

en:'hanging' big toe

•

en:premature exertional muscle weakness

•

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

•

en:isolated necrotic fibers

•

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

•

en:degenerating nerve terminals

•

en:myofibrillar lesions

•

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

•

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

•

en:inclusions are tdp43-immunoreactive

•

en:hyperactive deep tendon reflexes

•

en:emg shows myopathic pattern

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:distal limb muscle weakness and atrophy

•

en:muscle weakness begins proximally

•

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

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:chronic denervation/reinnervation seen on emg

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

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

•

en:hyporeflexia or areflexia

•

en:inability to stand on tiptoes

•

en:giant granules in muscle cells

•

en:myopathic features seen on biopsy

•

en:polymyositis

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:quadriceps aplasia

•

en:tibialis anterior muscle affected

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle atrophy in the limbs

•

en:lipoatrophy

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:type 2 muscle fiber predominance

•

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

•

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

•

en:hyaline plaques with absent oxidative activity

•

en:increased intramuscular fat

•

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

•

en:muscle biopsy shows chronic and active denervation

•

en:necrosis

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:weakness of ankle plantar flexion

•

en:increased intraabdominal fat

•

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

•

en:mitochondrial paracrystalline inclusion bodies

•

en:lower limbs more affected than upper limbs

•

en:no facial muscle involvement

•

en:generalized muscle contractions, episodic

•

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

•

en:cox-negative fibers

•

en:benign soft tissue developmental anomalies

•

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

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:myogenic profile on electromyography

•

en:muscle pain and cramps following exercise

•

en:muscle mounding

•

en:muscle hypertrophy (meb)

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:mitochondria show paracrystalline inclusions

•

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

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:multi-core congenital myopathy

•

en:mild distal muscle atrophy

•

en:mild atrophy of the proximal lower limbs

•

en:mallory-like bodies

•

en:lymphangiectasia

•

en:loss of truncal subcutaneous adipose tissue

•

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

•

en:nemaline bodies are rarely intranuclear

•

en:shoulder weakness and atrophy

•

en:patients achieve independent ambulation, but may lose it

•

en:limb-girdle muscular dystrophy

•

en:type ii fiber predominance

•

en:type 1 muscle fiber predominance

•

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

•

en:trunk muscle atrophy

•

en:triceps weakness

•

en:thenar amyotrophy (rare)

•

en:superior rectus atrophy

•

en:stiffness (uncommon)

•

en:small atrophic fibers (in some patients)

•

en:severe form shows absence of spontaneous activity at birth

•

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

•

en:rhabdomyolysis (in some patients)

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:reduced muscle mass

•

en:red-ragged fibers (2p21del)

•

en:ragged red fibers (in some patients)

•

en:proximal muscle weakness (85% of patients)

•

en:proximal limb muscle weakness initially

•

en:prolonged achr channel opening episodes

•

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

•

en:primarily affects lower limbs

•

en:loss of facial adipose tissue

•

en:gastrocnemius and soleus muscles most affected

•

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

•

en:cellulitis or infection may occur

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

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

•

en:decreased postsynaptic length

•

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

•

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

•

en:decreased mitochondria

•

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

•

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

•

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

•

en:cellulitis due to immunodeficiency

•

en:delayed motor development (cvs+)

•

en:calf muscle discomfort

•

en:biopsy shows defects in pyruvate oxidation

•

en:axial weakness

•

en:axial muscle hyperextension, episodic

•

en:attacks precipitated by rest after exercise

•

en:ankle clonus

•

en:angulated atrophic muscle fibers

•

en:abnormal fatigue

•

en:pelvic girdle amyotrophy

•

en:muscle soft, tissue

•

en:degrading mitochondria

•

en:difficulty walking, running

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:grip strength decreased

•

en:intracellular granular osmiophilic deposits

•

en:inflammatory cells absent

•

en:increased perisarcolemmal calcium deposition

•

en:increased fat and fibrous tissue

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotonia, severe (patient b)

•

en:hypotonia, neonatal, severe (hcs)

•

en:hypotonia, generalized (in some patients)

•

en:hand muscle atrophy

•

en:group fiber atrophy (in some patients)

•

en:glycogen accumulation seen on biopsy

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:upper and/or lower limbs may be affected

•

en:flaccid neck

•

en:exercise-induced myalgia

•

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

•

en:emg shows myopathic or neurogenic changes

•

en:edema at birth

•

en:edematous hands and feet (1 patient)

•

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

•

en:distal muscle weakness may occur

•

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

•

en:umbilical depression

•

en:edema (hands and feet)

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:muscle biopsy shows nemaline rods

•

en:no staining for periodic acid schiff (pas)

•

en:no muscle fiber necrosis

•

en:nemaline rods (rare)

•

en:nemaline bodies

•

en:muscular fasciculation

•

en:muscle weakness trunk

•

en:muscle weakness is not a feature

•

en:muscle shows lipid accumulation

•

en:muscle hypertrophy in affected area

•

en:muscle biopsy shows lipid droplets

•

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

•

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

•

en:muscle biopsy shows centralized nuclei

•

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

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle aches, cramps

•

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

•

en:mitochondria dna deletion

•

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

•

en:mitochondrial myopathies

•

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

•

en:paracrystalline inclusions

•

en:pelvic girdle weakness and atrophy

•

en:loss of adipose tissue occurs around puberty

•

en:subcutaneous lipomatous tissue

•

en:hereditary motor and sensory neuropathy, type iic (disorder)

•

en:virtually no active movement at birth (wws)

•

en:variation of myofiber diameter

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:variation of fiber size and shape

•

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

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:tendon tears

•

en:subsarcolemmal lipofuscin-positive deposits

•

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

•

en:poor head control in infancy

•

en:soft fleshy palms (50%)

•

en:slim, muscular build (in some patients)

•

en:scattered necrotic fibers

•

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

•

en:rimmed vacuoles

•

en:rhabdomyolysis with exercise (in older patients)

•

en:respiratory distress (congenital form)

•

en:proximal and distal muscle atrophy

•

en:prominent muscular appearance

•

en:primary myopathic changes seen on emg

•

en:mild muscular hypotonia

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

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

•

en:cox-deficient fibers

•

en:distal muscle atrophy due to neuropathy

•

en:decremental response to repetitive nerve stimulation

•

en:decreased quantal release

•

en:decreased muscle mass in the thighs

•

en:decreased mitochondrial respiratory chain complex activity

•

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

•

en:decreased exercise tolerance

•

en:decreased activity of respiratory complex ii+iii

•

en:decreased activity of mitochondrial complex iii

•

en:cores or minicores

•

en:distal muscle weakness, upper and lower limbs

•

en:congophilic inclusions

•

en:chronic fatigable muscles

•

en:axial muscle weakness

•

en:axial hypotonia (in some patients)

•

en:angulated fibers

•

en:abnormal muscle tone

•

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

•

en:z-disk degeneration

•

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

•

en:intranuclear inclusions (1 family)

•

en:distal muscle weakness, lower legs

•

en:winged scapula

•

en:distal muscle weakness due to neuropathy

•

en:haemorrhage subcutaneous

•

en:increased numbers of endplate regions seen on muscle biopsy

•

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

•

en:increased muscle lipid content

•

en:increased falls

•

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

•

en:hypotrophy of the small hand muscles

•

en:hypotonia, severe, persistent

•

en:hypothenar muscle atrophy

•

en:hip girdle muscle atrophy

•

en:hangrip myotonia

•

en:walking may be limited

•

en:generalized limb muscle atrophy

•

en:fiber size variation seen on muscle biopsy

•

en:fat pads on the hands and feet

•

en:exercise-induced muscle cramps

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:edema is present at birth and then slowly decreases

•

en:edema

•

en:easy bruisability of lower extremities

•

en:easy fatigability with exercise

•

en:flaccid weakness or paralysis, episodic attacks

•

en:distal myopathy (in 1 family)

•

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

•

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

•

en:muscle pain after exercise

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle spasticity

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

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

•

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

•

en:muscle biopsy shows myofibrillar disruption

•

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

•

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

•

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

•

en:muscle atrophy, limb-girdle and proximal

•

en:mild muscle weakness

•

en:marked muscular hypertrophy

•

en:marked lack of adipose tissue

•

en:lower limb muscle hypotrophy

•

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

•

en:muscular hypotonia of the trunk

•

en:muscle weakness, limb-girdle, mild

•

en:polyglucosan accumulation

•

en:ragged red fibers seen on skeletal muscle biopsy

•

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

•

en:ragged-red muscle fibers

•

en:proximal weakness

•

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

•

en:prominent musculature

•

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

•

en:postexercise cmap amplitude facilitation

•

en:poor development of the postsynaptic membrane

•

en:peroneal muscle atrophy

•

en:muscle weakness, primarily proximal

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:myxedematous appearance

•

en:myotonia is most pronounced in the extremities

•

en:myopathy in approximately 45% of patients

•

en:myopathy (in some patients)

•

en:myopathy, mild to severe

•

en:myopathic findings on biopsy have been occasionally reported

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness (hcs)

•

en:painful swelling in fasciae

•

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

•

en:loss of ambulation

•

en:calf atrophy (later onset)

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased coenzyme q10

•

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

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

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

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:congophilic amyloid material

•

en:central cores seen on muscle biopsy

•

en:calf hypertrophy (reported in 1 family)

•

en:calcific tendinitis

•

en:decreased muscle mitochondrial aconitase

•

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

•

en:absence of some scapular muscles (less common)

•

en:absence of necrosis

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal mitochondrial proliferation

•

en:abnormal mitochondria

•

en:abnormal iron deposition in mitochondria

•

en:'sloping' shoulders due to muscle atrophy

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:decreased muscle mass, especially distally

•

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

•

en:loss of achr

•

en:gait, drop foot

•

en:jitter

•

en:increased subcutaneous truncal adipose tissue

•

en:increased fibrosis (in some patients)

•

en:inclusions are dnajb6-immunoreactive

•

en:hypotonia, neonatal and later

•

en:hypotonia, axial, severe

•

en:generalized muscle weakness, proximal and distal

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:foot extensor muscle weakness (later onset)

•

en:degenerating mitochondria

•

en:finger and wrist extensor weakness

•

en:fibrillations in affected muscles

•

en:fat pad anterior to malleolus

•

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

•

en:facial muscle atrophy

•

en:easily fatigued (finding)

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:distal muscle wasting due to peripheral neuropathy

•

en:degeneration of junctional folds

•

en:recovery between attacks

•

en:lipoatrophy, generalized

•

en:repetitive response to single nerve stimulus

•

en:muscle weakness, distal more than proximal

•

en:myopathy, nonprogressive

•

en:myopathic features seen on emg

•

en:myasthenic syndrome (hcs)

•

en:muscular dystrophy (in some patients)

•

en:muscular dystrophy

•

en:muscle weakness lower limb

•

en:muscle weakness associated with fasting or infection

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle stiffness (in older patients)

•

en:neurogenic abnormalities seen on emg

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle cramps during exercise

•

en:muscle biopsy shows glycogen storage

•

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

•

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

•

en:muscle atrophy, proximal, upper and lower limbs

•

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

•

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

•

en:inguinal hernia

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:neurogenic changes seen on emg

•

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

•

en:scapular muscle weakness

•

en:rhabdomyolysis, episodic

•

en:wide variation in fiber size

•

en:vacuolar degeneration

•

en:umbilical hernia

•

en:type 1 fiber predominance

•

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

•

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

•

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

•

en:shoulder girdle weakness

•

en:pseudohypertrophy of muscle

•

en:nonspecific muscle fiber atrophy

•

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

•

en:proximal muscle weakness in upper limbs

•

en:proximal muscles more often affected

•

en:prominent involvement of the biceps brachii muscles

•

en:progressive muscle weakness

•

en:presynaptic defect at the neuromuscular junction

•

en:no myofibrillar abnormalities or protein aggregation

•

en:normal sensation

•

en:normal lamp2 staining (309060)

•

en:increased visceral fat

•

en:upper limb involvement may occur later

•

en:increased lipid droplets and abnormal mitochondria

•

en:weakness of all intrinsic hand muscles (later)

•

en:decreased activities of several mitochondrial respiratory enzymes

•

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

•

en:chronic denervation seen on emg

•

en:centrally nucleated skeletal muscle fibers

•

en:centralized myonuclei

•

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

•

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

•

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

•

en:abnormal distribution of subcutaneous fat

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:difficulty walking

•

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

•

en:type 2 fiber predominance

•

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

•

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

•

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

•

en:subcutaneous fat markedly reduced (in some patients)

•

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

•

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

•

en:increased focal mitochondrial density

•

en:difficulty rising from a squatting position

•

en:some abnormal aggregation of mitochondria

•

en:distal atrophy of the legs

•

en:hematomas, recurrent large subcutaneous

•

en:increased fatigue

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased fatty infiltration

•

en:hypotonia, profound

•

en:hypotonia, neonatal (in some patients)

•

en:hypoplasia of infraspinatus muscle

•

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

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:hip abductor weakness and atrophy

•

en:hyaline inclusion

•

en:gait abnormalities (occurs later)

•

en:emg may showed myotonic discharges

•

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

•

en:dystrophic skeletal muscle seen on biopsy

•

en:frontalis muscle weakness

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:exercise-induced muscle stiffness

•

en:facial muscle atrophy of involved side

•

en:facial paresis

•

en:fiber type variation

•

en:fibromyalgia

•

en:myalgia (in some patients)

•

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

•

en:muscle weakness and atrophy, distal

•

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

•

en:muscle weakness, variable

•

en:muscle weakness, severe, diffuse

•

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

•

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

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle wasting (especially legs and arms)

•

en:muscle hypertonia

•

en:muscle cramps may affect jaw muscles

•

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:muscle biopsy shows small rounded fibers

•

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

•

en:muscle atrophy, upper and lower limbs

•

en:muscles become hard and tender during exercise

•

en:myopathic pattern seen on emg

•

en:relative muscle weakness, especially in pelvic girdle

•

en:myotonic discharges

•

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

•

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

•

en:marked variability of fiber size

•

en:thenar muscle atrophy

•

en:swelling of the extremities, episodic

•

en:smooth muscle may also become involved

•

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

•

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

•

en:skeletal muscle biopsy shows reducing bodies

•

en:scapuloperoneal amyotrophy

•

en:necrotic muscle fibers

•

en:ring fibers

•

en:pyruvate oxidation defect

•

en:proximal muscle weakness (occasional)

•

en:progressive loss of facial adipose tissue

•

en:progression to proximal muscle weakness

•

en:poor muscle mass

•

en:panniculitis

•

en:nuclear clumps

•

en:normal or increased truncal adipose tissue

•

en:mitochondrial swelling

•

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

•

en:lymphedema of the extremities

•

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

•

en:deep finger muscle weakness

•

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

•

en:decreased numbers of type 2b fibers

•

en:decreased numbers of achr seen on muscle biopsy

•

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

•

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

•

en:cytochrome c oxidase-negative fibers

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:autophagosome

•

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

•

en:atrophy of type i fibers

•

en:atrophic muscle fibers

•

en:ascites (in some patients)

•

en:acute rhabdomyolysis

•

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

•

en:absence of collagen vi immunostaining

•

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

•

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

•

en:wasting of calf muscles (rare)

•

en:deltoid muscle hypoplasia

•

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

•

en:lymphedema (lower limb)

•

en:glycogen depletion in skeletal muscle

•

en:lymphedema, hands (rare)

•

en:loss of independent ambulation around age 12 years

•

en:lipomas or lipomatous masses (most cases)

•

en:limb weakness and atrophy

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:hypotrophic type 2 muscle fibers

•

en:humeroperoneal weakness and atrophy

•

en:hang weakness

•

en:foot-drop

•

en:distal limb muscle weakness (less common)

•

en:fibrous dysplasia (rare)

•

en:fasciculations (less common)

•

en:exercise intolerance (patient a)

•

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

•

en:emg shows chronic denervation

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:vacuoles in the myofiber cytoplasm

•

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

•

en:abnormal irregular myofibrillar network

•

en:muscle weakness, severe, axial and proximal predominance

•

en:normal or increased adipose tissue around the neck

•

en:nemaline rod formation

•

en:myositis (in some patients)

•

en:myopathic changes on pathology

•

en:myogenic changes seen on emg

•

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

•

en:muscular appearance

•

en:muscle weakness increases with age

•

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

•

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

•

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

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle atrophy (1 patient)

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:muscle atrophy, diffuse, severe

•

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

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:minimal muscle mass

•

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

•

en:pena-shokeir syndrome type i

•

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

•

en:shoulder weakness

•

en:z-disk streaming

•

en:weakness and wasting of the lower limbs

•

en:variation in skeletal muscle fiber diameter

•

en:variable fiber size

•

en:tenderness of lower extremities

•

en:small type ii fibers

•

en:small, angulated muscle fibers seen on muscle biopsy

•

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

•

en:shortening of flexor profundus muscle-tendon unit

•

en:prolonged endplate currents

•

en:severe muscular hypotonia

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:rupture of tendon

•

en:reduced muscle tone but normal power

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness, less severe

•

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

•

en:proximal lower limb amyotrophy

•

en:prominent veins, lower limbs

•

en:macroglossia

•

en:signs of denervation seen on biopsy

•

en:loss of gluteal adipose tissue

•

en:biceps brachii atrophy

•

en:decreased or absent ankle reflexes

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased cytochrome c oxidase staining

•

en:decreased achr

•

en:cytoplasmic inclusion bodies (finding)

•

en:buffalo hump (rare)

•

en:broad-based gait

•

en:biopsy shows myopathy without vacuoles

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:delayed ambulation

•

en:asymmetric muscle involvement

•

en:anterior tibial muscles first involved

•

en:angular atrophic fibers

•

en:amorphous granulofilamentous material associated with z-discs

•

en:aggregates contain granular electron-dense material

•

en:adiposis on mri

•

en:absence of telethonin protein

•

en:lipid accumulation in muscle tissue

•

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

•

en:anasarca

•

en:denuded postsynaptic regions

•

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

•

en:deposits immunoreactive to beta-amyloid protein

•

en:involves upper and lower proximal muscles

•

en:internal nuclei

•

en:hypotonia, mild (1 patient)

•

en:hypoactive gag reflex

•

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

•

en:generalized hypotonia

•

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

•

en:increased muscle tone (early in life)

•

en:edema, subcutaneous, generalized

•

en:disorganization of the myofibrillar pattern

•

en:diastasis recti

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:difficulty walking, running, climbing stairs

•

en:difficulty walking up stairs

•

en:limb-girdle muscle weakness

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:distal limb muscle atrophy, lower more than upper

•

en:distal muscle weakness

•

en:minicores extend full fiber diameter

•

en:muscle atrophy appears later in disease course

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, congenital

•

en:muscle rigidity

•

en:muscle hematoma

•

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

•

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

•

en:nonspecific myopathic changes

•

en:muscle

•

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

•

en:mri shows increased connective tissue and fat

•

en:mitochondrial myopathy, severe

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:relative sparing of the tibialis anterior

•

en:no lipodystrophy in face and neck

•

en:secondary loss of merosin and desmin

•

en:thin musculature

•

en:loss of subcutaneous fat

•

en:small or absent axon terminals

•

en:shoulder muscle weakness (in some patients)

•

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

•

en:shortened open channel duration

•

en:rupture of muscle

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:ragged-red fibers on muscle biopsy

•

en:quadriceps atrophy

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:predominantly lower limb lymphedema

•

en:potassium sensitivity has been reported

•

en:poor muscle build

•

en:loss of subcutaneous fat, generalized

•

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

•

en:limb muscle weakness, proximal, upper and lower

•

en:decreased ability to run

•

en:difficulty rising from chair

•

en:denervation of skeletal muscles

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

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

•

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

•

en:decreased achr at the endplate

•

en:clumsiness

•

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

•

en:bulbar weakness

•

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

•

en:biopsy muscle normal

•

en:angioedema

•

en:absence of muscle pseudohypertrophy

•

en:abnormal z bands

•

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

•

en:disorganization of the neuromuscular junction

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:lack of facial subcutaneous fat

•

en:gowers sign (in some patients)

•

en:increased numbers of type 1 fibers

•

en:increased mitochondria with abnormal cristae

•

en:hypotonia (patient b)

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hypertonicity of the lower limbs

•

en:gowers sign present

•

en:generalized muscle weakness

•

en:dystrophic changes occur later

•

en:fiber type grouping

•

en:fiber-type grouping pattern

•

en:fatty infiltration seen on muscle biopsy

•

en:fatty infiltration

•

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

•

en:electromyogram abnormal

•

en:edema of dorsum of hands and feet

•

en:ubiquinone decreased

•

en:tubular aggregates (in some patients)

•

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

•

en:muscle weakness (type i)

•

en:no rods

•

en:normal dystrophin immunostaining

•

en:non-pitting edema

•

en:necrotic fibers

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myopathic changes seen on biopsy

•

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

•

en:proximal muscle involvement may occur

•

en:muscle weakness, particularly of the lower limbs

•

en:muscle strength and bulk is preserved

•

en:muscle paralysis, episodic

•

en:muscle pain following exercise (in some patients)

•

en:muscle pain (less common)

•

en:muscle hypertrophy

•

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

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:proximal muscle weakness, mild

•

en:muscle atrophy (type i)

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

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

•

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

•

en:triceps aplasia

•

en:thick palmar fascia

•

en:small rounded fibers

•

en:small atrophic muscle fibers

•

en:shortening of various muscle-tendon groups in feet

•

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

•

en:secondary loss of sarcolemmal caveolin-3

•

en:rounded, atrophic fibers (family a)

•

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

•

en:replacement of affected muscle tissue with fatty tissue

•

en:repetitive response to single nerve stimulation

•

en:repetitive action potentials in response to single nerve stimulation

•

en:relative sparing of the rectus femoris

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

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

•

en:mri shows fatty replacement

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:dorsal and flexor muscles of the forearm are involved

•

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

•

en:distal muscle atrophy due to denervation

•

en:depletion of mitochondrial dna

•

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

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:emg shows high-frequency spontaneous discharges

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:central nuclei

•

en:calf muscle weakness

•

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

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:mitochondrial complex i deficiency

•

en:absence of myotonia in infancy (congenital form)

•

en:dysarthria

•

en:cellulitis in lower limbs, recurrent

•

en:emg shows myopathic and neurogenic changes

•

en:hypertonia in infancy

•

en:eosinophilic inclusions

•

en:merosin-positive biopsy

•

en:lymphedema of the hands (in some patients)

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:increased connective tissue and fat

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:leg cramps may occur with exercise

•

en:head drop due to neck muscle weakness

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:fiber size variation (in some patients)

•

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

•

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

•

en:generalized muscle weakness, severe

•

en:gluteal hypoplasia

•

en:distal muscle atrophy (1 patient)

•

en:calf muscle enlargement

•

en:cytochrome-c oxidase deficiency

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:decreased coenzyme q10 content

•

en:autophagic rimmed vacuoles

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:decreased muscle succinate dehydrogenase

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:difficulty running

•

en:difficulty running or inability to run

•

en:disruption of sarcomeres with disorganization of the z band

•

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

•

en:endplate myopathy

•

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

•

en:distal muscle weakness and atrophy

•

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

•

en:distal muscle weakness occurs later

•

en:dystrophic changes on biopsy

•

en:emg consistent with chronic neurogenic disorder

•

en:emg may show neurogenic changes

•

en:exercise intolerance (less common)

•

en:exertional fatigue

•

en:facial edema

•

en:fasciculations (in some patients)

•

en:fat accumulation in the suprabuttock area

•

en:atrophy of upper girdle muscles

•

en:fat pad between achilles tendon and medial malleolus

•

en:attacks relieved by potassium administration

•

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

•

en:atrophy of the lower leg muscles

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:hernia

•

en:pelvic girdle muscle atrophy

•

en:pelvic muscle involvement occurs later

•

en:percussion myotonias

•

en:poor sarcomeric structure (in some patients)

•

en:progressive distal and proximal symmetric limb weakness

•

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

•

en:protein aggregates immunopositive for actin and desmin

•

en:proximal muscle weakness

•

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

•

en:reduced subcutaneous adipose tissue

•

en:replacement of myofibers with connective tissue

•

en:sarcoplasmic inclusions

•

en:spasm

•

en:atrophy of shins

•

en:spontaneous muscle activity

•

en:subsarcolemmal mitochondrial accumulation

•

en:tetanus-like muscle contractions

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:unable to walk

•

en:uterine muscle may be stiff during pregnancy

•

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

•

en:z-band streaming

•

en:absence of gamma-sarcoglycan protein

•

en:amyotrophy (1 patient)

•

en:atrophic fibers seen on biopsy

•

en:atrophy, mild (in some cases)

•

en:gait unsteady

•

en:positive staining for atpase activity at ph of 4.3

•

en:hypoplasia of supraspinatus muscle

•

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

•

en:onset of weakness in hands and feet

•

en:peripheral edema

•

en:poor exercise tolerance

•

en:progressive distal muscle weakness

•

en:progressive interictal weakness is common

•

en:progressive proximal muscle weakness

•

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

•

en:ragged red fibers seen on biopsy

•

en:rhabdomyolysis

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:shoulder muscle weakness

•

en:small miniature endplate currents (mepc)

•

en:some subcutaneous adipose tissue may remain on upper arms

•

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

•

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

•

en:subsarcolemmal mitochondrial aggregates

•

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

•

en:toe and foot dorsiflexor weakness

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

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

•

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

•

en:type 2 fiber hypertrophy

•

en:usually no myopathic changes on biopsy

•

en:weakness

•

en:weakness of anterior compartment tibial muscles

•

en:weakness of neck extensors (rare)

•

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

•

en:face edema

•

en:normal or increased facial and neck adipose tissue

•

en:muscle weakness and atrophy

•

en:hyporeflexia of lower limbs

•

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

•

en:hypotonia (in some patients)

•

en:imaging shows muscle atrophy and fatty replacement

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

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

•

en:increased variability of fiber size seen on muscle biopsy

•

en:interosseus muscles involved

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:limb-girdle muscle weakness (2 families)

•

en:lipodystrophy

•

en:loss of ability to walk in early childhood

•

en:loss of ambulation (in some patients)

•

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

•

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

•

en:multiple mitochondrial dna deletions

•

en:muscle weakness, proximal more than distal

•

en:muscle atrophy, severe

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle cramps, painful, recurrent

•

en:muscle fatigability

•

en:muscle fiber necrosis

•

en:muscle hyperirritability

•

en:muscle pain and cramping on exertion

•

en:muscle weakness, distal, particularly affecting the hands

•

en:paradoxical myotonia (myotonia increases with exercise)

◀

Génériques

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›

en:shoulder

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118977 • caches: c1=54 c2=2206 c3=45

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