Diko : en:difficulty running or inability to run

en:difficulty running or inability to run

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1850681

Associations d'idées

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1000

en:muscle biopsy shows dystrophic pattern

•

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

•

en:heterotopic bone formation in subcutaneous fat

•

en:abnormal fat distribution

•

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

•

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

•

en:hypothenar muscle atrophy

•

en:hypotonia (patient a)

•

en:loss of lower-limb tendon reflexes

•

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

•

en:inclusions are tdp43-immunoreactive

•

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

•

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

•

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

•

en:fatty infiltration seen on muscle biopsy

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:fibrous dysplasia (rare)

•

en:positive staining for atpase activity at ph of 4.3

•

en:myopathy, mild

•

en:muscle biopsy shows myopathic or dystrophic changes

•

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

•

en:absence of some scapular muscles (less common)

•

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

•

en:decreased coenzyme q10

•

en:decreased mtdna

•

en:difficulty climbing stairs, jumping, running

•

en:difficulty walking, running, climbing stairs

•

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

•

en:gowers sign (patient a)

•

en:myalgia

•

en:muscle strength and bulk is preserved

•

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

•

en:repetitive response to single nerve stimulus

•

en:myogenic changes seen on emg

•

en:proximal muscles may be mildly affected

•

en:internal nuclei (in some patients)

•

en:edema, generalized

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:peripheral edema

•

en:calf muscle weakness

•

en:distal limb muscle atrophy, lower more than upper

•

en:dystrophic changes may be present

•

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

•

en:gait unsteady

•

en:impaired mitochondrial respiration

•

en:increased staining for myotilin, dystrophin, desmin

•

en:muscle atrophy, severe

•

en:atrophic muscle fibers

•

en:difficulty walking and climbing stairs

•

en:muscle weakness after cooling or on warming affected muscle

•

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

•

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

•

en:primarily affects lower limbs

•

en:tibialis anterior muscle affected

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:impaired toe-walking

•

en:hypoplasia of latissimus dorsi muscle

•

en:distal limb muscle weakness occurs later

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:autophagosome

•

en:central cores seen on muscle biopsy

•

en:decreased cytochrome c oxidase activity

•

en:difficulty walking up stairs

•

en:distal lower limb amyotrophy

•

en:distal muscle wasting, mild

•

en:hyperactive deep tendon reflexes

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:facial muscle weakness and atrophy, progressive

•

en:proximal muscles more often affected

•

en:angulated atrophic fibers

•

en:increased muscle glycogen content

•

en:marked variability of fiber size

•

en:myofibroma (in 1 patient)

•

en:neurogenic changes seen on emg and biopsy

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:secondary myopathic changes

•

en:severely decreased or absent lamp2 protein

•

en:tubular aggregates seen on muscle biopsy

•

en:decreased collagen vi

•

en:disorganization of the myofibrillar pattern

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:endplate myopathy

•

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

•

en:centralized myonuclei

•

en:generalized muscle weakness

•

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

•

en:gait, drop foot

•

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

•

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

•

en:type 2 muscle fiber atrophy

•

en:fibrillations in affected muscles

•

en:myopathic changes seen on biopsy

•

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

•

en:angioedema

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:calcific tendinitis

•

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

•

en:muscle weakness, lower limbs (patient a)

•

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

•

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

•

en:autophagic rimmed vacuoles

•

en:gowers sign present

•

en:hypoglycosylation of alpha-dystroglycan

•

en:muscle amyotrophy

•

en:myofibrillar myopathy

•

en:severe muscular hypotonia

•

en:mri shows fatty replacement

•

en:muscle pain following exercise (in some patients)

•

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

•

en:scattered necrotic fibers

•

en:mri may show cervical spinal cord atrophy

•

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

•

en:emg shows myopathic and neurogenic changes

•

en:electromyography shows myotonic discharges

•

en:proximal muscle weakness, lower limbs, mild

•

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

•

en:stiffness (uncommon)

•

en:lymphedema of the extremities

•

en:truncal hypotonia (family a)

•

en:some subcutaneous adipose tissue may remain on upper arms

•

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

•

en:slim, muscular build (in some patients)

•

en:increased number of small endplates

•

en:distal muscle weakness, predominantly lower limbs

•

en:decreased exercise tolerance

•

en:centralized nuclei may be seen

•

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

•

en:centralized nuclei, rare

•

en:centrally located nuclei seen on muscle biopsy

•

en:filamentous inclusions in muscle fibers

•

en:generalized muscle contractions, episodic

•

en:hypotonia, mild (1 patient)

•

en:inguinal hernia

•

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

•

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

•

en:mild atrophy of the proximal lower limbs

•

en:distal lower limb anterior compartment weakness

•

en:mitochondrial complex iii deficiency (disorder)

•

en:myxedematous appearance

•

en:increased muscle tone at birth

•

en:increased intramuscular fat

•

en:hypoplasia of cervical paravertebral muscles

•

en:myopathic changes on pathology

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle weakness (type i)

•

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

•

en:muscle shows lipid accumulation

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:lymphangitis, episodic

•

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

•

en:minimal muscle mass

•

en:mild decrease in mitochondrial respiratory chain activity

•

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

•

en:loss of ability to walk in early childhood

•

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

•

en:lipoatrophy

•

en:leg cramps may occur with exercise

•

en:lack of antigravity movements (patient b)

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myopathic features seen on emg

•

en:pseudohypertrophy of muscle

•

en:nemaline bodies

•

en:respiratory distress (congenital form)

•

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

•

en:abdominal muscle hypoplasia

•

en:'hanging' big toe

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:type 2 fiber predominance

•

en:tetanus-like muscle contractions

•

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

•

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

•

en:rhabdomyolysis, episodic and recurrent

•

en:increased fatigue

•

en:neurogenic changes

•

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

•

en:proximal muscle involvement may occur

•

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

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:poor muscle bulk

•

en:pectoralis hypoplasia

•

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

•

en:pain or cramping during sustained manual activity

•

en:no facial muscle involvement

•

en:normal or increased facial and neck adipose tissue

•

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

•

en:edema is present at birth and then slowly decreases

•

en:hypotonia (cvs+)

•

en:biopsy shows myopathic and dystrophic changes

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased muscle mitochondrial aconitase

•

en:decreased endplate potential and amplitudes

•

en:decreased complex i activity (rare)

•

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

•

en:cox-negative fibers seen on muscle biopsy

•

en:calf muscle pseudohypertrophy

•

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

•

en:bilateral facial weakness (congenital form)

•

en:degenerating mitochondria

•

en:axial weakness

•

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

•

en:atrophy of neck muscles may occur later

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:areflexia of lower limbs

•

en:amyotrophy affects c5 to t1 myotomes

•

en:acquired partial lipodystrophy

•

en:abnormal subcutaneous fat tissue distribution

•

en:abnormal mitochondria in skeletal muscle biopsy

•

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

•

en:degrading mitochondria

•

en:hypotonia, truncal and appendicular

•

en:emg shows myopathic features

•

en:hypotonia, severe, persistent

•

en:hypotonia, profound

•

en:hematomas, recurrent large subcutaneous

•

en:gowers sign

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:generalized muscle weakness, severe

•

en:fibrillation

•

en:facial edema

•

en:eosinophilic inclusions

•

en:emg shows fibrillations

•

en:deltoid muscle hypoplasia

•

en:easy bruisability of lower extremities

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness occurs later

•

en:distal muscle weakness in lower limbs, severe

•

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

•

en:distal muscle weakness and atrophy

•

en:distal muscle weakness, mild

•

en:distal limb muscle weakness, lower more than upper

•

en:difficulty walking and climbing stairs (patient a)

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

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

•

en:cores or minicores

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:muscle biopsy shows small rounded fibers

•

en:myotonic discharges

•

en:myogenic profile on electromyography

•

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

•

en:muscular atrophy

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness, limb-girdle, mild

•

en:muscle hypertrophy (meb)

•

en:muscle fiber immaturity

•

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

•

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

•

en:neurogenic changes later in disease seen on emg

•

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

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle atrophy later in the disease

•

en:muscle atrophy (in some patients)

•

en:muscle aches, intermittent

•

en:mitochondrial proliferation

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:lymphangiectasia

•

en:neck flexor weakness

•

en:painful muscle cramps

•

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

•

en:tubular aggregates (in some patients)

•

en:weakness of anterior compartment tibial muscles

•

en:absence of gamma-sarcoglycan protein

•

en:virtually no active movement at birth (wws)

•

en:variation of myofiber diameter

•

en:variable fiber size

•

en:upper limb muscle hypoplasia

•

en:umbilical hernia

•

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

•

en:type ii fiber atrophy seen on muscle biopsy

•

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

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:toe and foot dorsiflexor weakness

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:rupture of muscle

•

en:rimmed vacuoles on biopsy

•

en:reduced muscle mass

•

en:red-ragged fibers (2p21del)

•

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

•

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

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:pelvic girdle muscle atrophy

•

en:loose connective tissue

•

en:no dystrophic changes

•

en:lipoatrophy, generalized

•

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

•

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

•

en:decreased activity of complexes ii+iii

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:cox-negative fibers

•

en:congophilic deposits

•

en:chronic weakness

•

en:chronic denervation seen on emg

•

en:calf hypertrophy (uncommon)

•

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

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

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

•

en:axial muscle weakness

•

en:atrophy of upper girdle muscles

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:ankle edema (finding)

•

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

•

en:lipoatrophic appearance

•

en:absence of myotonia in infancy (congenital form)

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:calf muscle enlargement

•

en:humeroperoneal weakness and atrophy

•

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

•

en:increased subcutaneous truncal adipose tissue

•

en:decreased cytochrome c oxidase staining

•

en:increased perisarcolemmal calcium deposition

•

en:increased lysosomal glycogen

•

en:increased lipid

•

en:hypotonia, neonatal, severe (hcs)

•

en:hyporeflexia in affected muscles

•

en:generalized muscle weakness, proximal and distal

•

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

•

en:foot-drop

•

en:floppy infant syndrome

•

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

•

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

•

en:enlarged mitochondria

•

en:edema at birth

•

en:distal muscle atrophy due to peripheral neuropathy

•

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

•

en:difficulty standing

•

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

•

en:limb-girdle muscle atrophy

•

en:poor head control in infancy

•

en:predominance of oxidative fibers

•

en:numerous vacuole-like areas

•

en:progressive proximal muscle weakness

•

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

•

en:prolonged miniature endplate currents

•

en:proximal muscle weakness (120270.0002)

•

en:neck muscle hypoplasia

•

en:proximal muscle weakness in upper limbs

•

en:proximal upper limb amyotrophy

•

en:normal sensation

•

en:muscle weakness (cvs+)

•

en:neck and proximal limb muscle myopathy

•

en:myotonia is present in majority of cases

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

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

•

en:muscle weakness is not a feature

•

en:muscle weakness increases with age

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness, upper and lower limbs

•

en:rectus medial atrophy

•

en:muscle weakness, severe, axial and proximal predominance

•

en:quadriceps atrophy (later onset)

•

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

•

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

•

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

•

en:muscle pain and cramping on exertion

•

en:abnormal muscle tone

•

en:abnormal irregular myofibrillar network

•

en:widening of the synaptic cleft

•

en:wasting of calf muscles (rare)

•

en:variation in fibrodiameter seen on muscle biopsy

•

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

•

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

•

en:upper limb involvement occurs later or not at all

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:tubular aggregates seen on biopsy

•

en:rhabdomyolysis

•

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

•

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

•

en:symmetrical muscle wasting

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

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

•

en:some abnormal aggregation of mitochondria

•

en:skeletal myopathy

•

en:shoulder muscle hypoplasia

•

en:severe disability within 20 years of onset

•

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

•

en:muscle weakness, distal more than proximal

•

en:angular fibers (in some patients)

•

en:muscle biopsy shows mild dystrophic changes

•

en:cellulitis or infection may occur

•

en:distal muscle atrophy, affecting the lower limbs

•

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:decreased postsynaptic length

•

en:decreased muscle bulk

•

en:decreased lipoic acid

•

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

•

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

•

en:decreased activity of complex i and complex iv

•

en:cores extend along length of muscle fiber

•

en:calf pseudohypertrophy rare

•

en:edema

•

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

•

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

•

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

•

en:attacks last 4 to 24 hours

•

en:atrophic

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:accelerated decay of the synaptic current

•

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

•

en:abnormal z bands

•

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

•

en:absence of merosin in muscle

•

en:dysarthria

•

en:edema reoccurs with infections

•

en:muscle biopsy shows atrophic fibers

•

en:increased endomysial connective tissue around muscle fibers

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle atrophy (1 patient)

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:minicores or core-like regions may be present

•

en:low muscle mass

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:lipodystrophy

•

en:limb weakness, proximal followed by distal

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:increased fatty infiltration

•

en:increased echo intensity in affected muscles

•

en:emg consistent with chronic neurogenic disorder

•

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

•

en:imaging shows muscle atrophy and fatty replacement

•

en:hypotonia (2 patients)

•

en:hypoactive gag reflex

•

en:hypertonia in infancy

•

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

•

en:fibromyalgia

•

en:fatty deposition

•

en:exertional fatigue

•

en:exercise intolerance (less common)

•

en:emg shows myopathic pattern

•

en:absence of caveolin-3 staining

•

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

•

en:adiposis on mri

•

en:myofibrillar disorganization

•

en:patients achieve independent ambulation, but may lose it

•

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

•

en:painful swelling in fasciae

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:no staining for oxidative enzymes

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:normal or increased abdominal adipose tissue

•

en:normal neonatal period may occur before weakness is apparent

•

en:myopathic pattern seen on emg

•

en:myopathic findings on biopsy have been occasionally reported

•

en:muscle weakness (in some patients)

•

en:poor muscle mass

•

en:muscle weakness (hcs)

•

en:muscle weakness, severe

•

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

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle weakness, congenital

•

en:muscle wasting (especially legs and arms)

•

en:muscle wasting, progressive

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows myofiber degeneration

•

en:poor head control

•

en:postexercise cmap amplitude facilitation

•

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

•

en:swelling of the hands and feet, episodic

•

en:asymmetric muscle involvement

•

en:z-disk streaming

•

en:wrist swelling

•

en:weakness of neck extensors (rare)

•

en:upper limb weakness

•

en:umbilical cord bleeding

•

en:type 1 fiber atrophy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:transient neonatal hypotonia (less common)

•

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

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:progressive proximal muscle involvement

•

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

•

en:signs of denervation seen on biopsy

•

en:shortening of various muscle-tendon groups in legs

•

en:scapuloperoneal weakness

•

en:scapular muscle atrophy

•

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

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal muscle atrophy (in some patients)

•

en:proximal amyotrophy

•

en:prominent involvement of the quadriceps femoris muscles

•

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

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:swelling of the affected areas

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

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

•

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

•

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

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:delayed ambulation

•

en:degenerative changes with increased connective tissue

•

en:degenerating junctional folds

•

en:degenerate mitochondrial on em

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased postsynaptic achr

•

en:decreased hand grip strength

•

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

•

en:decreased distal reflexes

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:decreased activity of mitochondrial complex iii

•

en:centrally nucleated skeletal muscle fibers

•

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

•

en:calf muscle hypoplasia

•

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

•

en:biopsy shows myopathy without vacuoles

•

en:attacks precipitated by potassium

•

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

•

en:distal muscular atrophy due to peripheral neuropathy

•

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

•

en:emg shows chronic denervation

•

en:large lipid droplets

•

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

•

en:emg shows neurogenic changes

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscles become hard and tender during exercise

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mitochondrial dna depletion (in some)

•

en:mild proximal muscle weakness (<10% of patients)

•

en:mildly decreased cytochrome c oxidase activity

•

en:loss of sarcomeric striations

•

en:loss of independent ambulation around age 12 years

•

en:loss of ambulation between third and sixth decade

•

en:mitochondrial swelling

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:impaired heel-walking

•

en:foot extensor muscle weakness (later onset)

•

en:exercise intolerance (cvs+)

•

en:gait abnormality

•

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

•

en:hypotonia (1 patient)

•

en:inclusions are dnajb6-immunoreactive

•

en:increased glycogen

•

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

•

en:infantile axial hypotonia

•

en:inflammatory cells absent

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle paralysis, episodic

•

en:muscle fiber splitting

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle biopsy shows centralized nuclei

•

en:minipolymyoclonus

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscle atrophy (type i)

•

en:mitochondria dna deletion

•

en:mitochondrial myopathies

•

en:loss of subcutaneous adipose tissue in limbs

•

en:mild muscle atrophy in forearm muscles

•

en:mild endplate myopathy

•

en:macroglossia

•

en:muscular dystrophy (in some patients)

•

en:lymphedema of the hands (in some patients)

•

en:muscle weakness lower limb

•

en:primary myopathic changes seen on emg

•

en:muscular stiffness

•

en:proximal limb muscle weakness (occurs later)

•

en:skeletal muscle biopsy shows reducing bodies

•

en:loss of ambulation (in some patients)

•

en:secondary loss of sarcolemmal caveolin-3

•

en:scapular muscle weakness

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rounded, atrophic fibers (family a)

•

en:relative sparing of the rectus femoris

•

en:relatively preserved limb strength

•

en:presynaptic defect at the neuromuscular junction

•

en:myasthenic syndrome (hcs)

•

en:positive staining for slow myosin heavy chain

•

en:paracrystalline inclusions

•

en:no myofibrillar abnormalities or protein aggregation

•

en:normal phosphorylase kinase activity in muscle

•

en:normal or decreased facial and neck adipose tissue

•

en:nemaline rod formation

•

en:nemaline myopathy (in 1 reported male)

•

en:myofibril destruction (in some patients)

•

en:loss of antigravity strength

•

en:decreased muscle density on imaging

•

en:lipoma

•

en:biceps aplasia

•

en:degeneration of junctional folds

•

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

•

en:decreased atp production

•

en:decreased achilles reflex

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:cold sensitivity has been reported

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:bulbar weakness

•

en:attacks of weakness

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophy, neurogenic muscular

•

en:ascites (in some patients)

•

en:apoptotic nuclei

•

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

•

en:abnormal aggregation of mitochondria

•

en:'sloping' shoulders due to muscle atrophy

•

en:small atrophic fibers (in some patients)

•

en:difficulty walking

•

en:distal lower limb muscle weakness

•

en:lipodystrophy (in some patients)

•

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

•

en:lipid accumulation in muscle tissue

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:limb lymphedema (in some patients)

•

en:limb-girdle muscle weakness

•

en:isolated necrotic fibers

•

en:intranuclear inclusions (1 family)

•

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

•

en:increased length of endplate regions seen on muscle biopsy

•

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

•

en:distal muscle atrophy due to neuropathy

•

en:gluteal hypoplasia

•

en:generalized hypotonia

•

en:fragmented mitochondrial network

•

en:emg shows neurogenic changes consistent with denervation

•

en:emg may showed myotonic discharges

•

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

•

en:dorsal and flexor muscles of the forearm are involved

•

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

•

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

•

en:abnormally long mitochondria seen on muscle biopsy

•

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

•

en:muscle cramps at rest

•

en:muscular dystrophy (in 1 of 3 patients)

•

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

•

en:muscle weakness in forearm muscles

•

en:muscle weakness begins proximally

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness and atrophy, distal

•

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

•

en:muscle hematoma

•

en:muscle cramps (also seen in some heterozygotes)

•

en:myopathic changes seen on emg of affected muscle

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

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

•

en:muscles have a woody consistency on palpation

•

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

•

en:mri shows fatty infiltration of affected muscles

•

en:myopathic changes early in disease seen on emg

•

en:myopathic features seen on biopsy

•

en:mildly increased mtdna

•

en:shortened open channel duration

•

en:swelling of the extremities, episodic

•

en:upper limb involvement may occur later

•

en:underdeveloped muscles (in some patients)

•

en:type 2 fiber hypertrophy

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

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

•

en:skeletal muscle damage

•

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

•

en:replacement of myofibers with connective tissue

•

en:myotonia is most pronounced in the extremities

•

en:relative muscle weakness, especially in pelvic girdle

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:recovery between attacks

•

en:ragged-red fibers on muscle biopsy

•

en:pharyngeal muscle weakness

•

en:neuropathic process seen on muscle biopsy

•

en:nemaline rods (in some patients)

•

en:nemaline bodies are rarely intranuclear

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:mitochondria show paracrystalline inclusions

•

en:myopathic and neurogenic changes seen on emg

•

en:mallory-like bodies

•

en:angulated fibers

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased activity of respiratory complex ii+iii

•

en:decreased achr

•

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

•

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

•

en:atrophy of shins

•

en:areflexia due to muscle weakness

•

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

•

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

•

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

•

en:abnormal aggregates of desmin and filamin c

•

en:waddling gait

•

en:vacuolar myopathy may occur

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:trunk muscle atrophy

•

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

•

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

•

en:symptoms may be induced by heat

•

en:decreased muscle mass

•

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

•

en:disorganization of the neuromuscular junction

•

en:gastrocnemius and soleus muscles most affected

•

en:lipomas or lipomatous masses (most cases)

•

en:distal muscle weakness, occurs initially

•

en:limb-girdle muscular dystrophy

•

en:increased variation in muscle fiber diameter

•

en:hypoplasia of serratus anterior muscle

•

en:group fiber atrophy (in some patients)

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized muscle hypertrophy

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:lipid and glycogen accumulation

•

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

•

en:emg shows myopathic changes

•

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

•

en:dystrophic changes occur later

•

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

•

en:emg shows myopathic or neurogenic changes

•

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

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:mild muscular hypotonia

•

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

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle atrophy in the limbs

•

en:muscle atrophy, diffuse, severe

•

en:muscle aches, cramps

•

en:mitochondrial dna deletion (1 patient)

•

en:loss of subcutaneous fat, diffuse

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

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

•

en:lower limbs more affected than upper limbs

•

en:limb-girdle myopathy

•

en:involves upper and lower proximal muscles

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:increased muscle tone (early in life)

•

en:muscle mri shows fatty infiltration

•

en:muscle cramps during exercise

•

en:spontaneous muscle activity

•

en:muscle wasting due to chronic denervation

•

en:nonspecific myopathy seen on biopsy

•

en:increased focal mitochondrial density

•

en:small miniature endplate potentials (mepp)

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:proximal muscle weakness (in some patients)

•

en:prominent muscular appearance

•

en:poor exercise tolerance

•

en:phagocytic vacuoles with degraded membranous material

•

en:normal dystrophin immunostaining

•

en:nonspecific muscle fiber atrophy

•

en:muscle weakness, hypokalemia-related

•

en:neurogenic abnormalities seen on emg

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:myopathy, nonprogressive

•

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

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle weakness and atrophy

•

en:muscle weakness, severe, proximal and distal

•

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

•

en:increased internal nuclei in skeletal muscle fibers

•

en:abnormal mitochondria with loss of cristae

•

en:increased connective tissue and fat

•

en:carpopedal spasm

•

en:distal amyotrophy

•

en:difficulty running and jumping

•

en:decreased density of calcium release units

•

en:decreased adipose tissue around neck

•

en:decreased achr at the endplate

•

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

•

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

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:calf hypertrophy (reported in 1 family)

•

en:distal muscle weakness, upper and lower limbs

•

en:buffalo hump

•

en:biopsy shows defects in pyruvate oxidation

•

en:axial muscle hyperextension, episodic

•

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

•

en:angulated atrophic muscle fibers

•

en:amyotrophy, neurogenic

•

en:accumulation of abnormal mitochondria

•

en:absence of collagen vi immunostaining

•

en:tendinous and tuberous xanthoma

•

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

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:inability to jump or squat

•

en:gait abnormalities (occurs later)

•

en:hyporeflexia

•

en:hypoplasia of muscle

•

en:hypoplasia of infraspinatus muscle

•

en:hip abductor weakness and atrophy

•

en:hernia

•

en:haemorrhage subcutaneous

•

en:glycogen deficiency in muscle fibers

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:forearm muscle weakness

•

en:emg shows high-frequency spontaneous discharges

•

en:foot dorsiflexor weakness

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:flaccid weakness or paralysis, episodic attacks

•

en:fat accumulation in the suprabuttock area

•

en:fatty replacement

•

en:facial muscle atrophy of involved side

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:evidence of lymphatic rerouting

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

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

•

en:reduced muscle strength (in some patients)

•

en:thenar muscle atrophy

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle weakness, proximal and distal

•

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

•

en:muscle pain and cramps following exercise

•

en:muscle hypertrophy may occur

•

en:muscle fiber regeneration

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows ragged red fibers

•

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

•

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

•

en:neonatal edema (in some patients)

•

en:muscle atrophy, upper and lower limbs

•

en:multi-core congenital myopathy

•

en:mitochondrial myopathy, severe

•

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

•

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

•

en:lymphedema of lower extremity

•

en:lymphedema

•

en:lower limb muscle hypotrophy

•

en:loss of facial adipose tissue

•

en:myopathic changes seen on emg

•

en:no muscle weakness

•

en:internal nuclei seen on muscle biopsy

•

en:tetany

•

en:thin musculature

•

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

•

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

•

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

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:vacuolar myopathy

•

en:usually no myopathic changes on biopsy

•

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

•

en:tenderness of lower extremities

•

en:pelvic muscle involvement occurs later

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:soft fleshy palms (50%)

•

en:small miniature endplate currents (mepc)

•

en:slowly progressive limb-girdle myopathy

•

en:rhabdomyolysis (in some patients)

•

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

•

en:reduced ankle dorsiflexion

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:polyglucosan accumulation

•

en:loss of achr

•

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

•

en:increased numbers of type 1 fibers

•

en:z-line streaming see on electron microscopy

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased muscle mass in the thighs

•

en:decreased muscle mass (in some patients)

•

en:decreased caveolae in muscle tissue

•

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

•

en:congenital absence of gluteal muscles

•

en:calf hypertrophy (early in the disease)

•

en:abnormalities in myofibril organization

•

en:z-disk degeneration

•

en:diastasis recti

•

en:winged scapula

•

en:weakness of ankle plantar flexion

•

en:weakness of all intrinsic hand muscles (later)

•

en:walking may be limited

•

en:velopharyngeal muscle weakness

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:usually a unilateral disorder

•

en:increased fibrosis

•

en:tubular aggregates in muscle fibers may occur

•

en:depletion of mitochondrial dna

•

en:abnormal size and shape of synaptic endplates

•

en:flaccid neck

•

en:increased connective tissue (in some patients)

•

en:hypotonia, severe (patient b)

•

en:difficulty running

•

en:hypotonia, severe, neonatal

•

en:hypotonia, mild

•

en:gowers sign (in some patients)

•

en:glycogen accumulation seen on biopsy

•

en:fiber type grouping

•

en:familial generalized lipodystrophy

•

en:exercise-induced muscle fatigue

•

en:enteroviral dermatomyositis syndrome

•

en:emg shows myopathy

•

en:emg shows increased insertion activity and fibrillation

•

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

•

en:electromyogram abnormal

•

en:edema of lower extremity

•

en:distal muscle atrophy due to neurologic disease

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal limb muscle weakness (less common)

•

en:difficulty walking, running

•

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

•

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

•

en:fasciculations (less common)

•

en:extensor finger muscle weakness

•

en:limb muscular atrophy

•

en:exertional leg pain

•

en:emg shows fasciculations

•

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

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:electron microscopy showed z-disk streaming

•

en:frequent falls

•

en:increased mitochondria with abnormal cristae

•

en:global muscle weakness

•

en:handgrip myotonia

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hypotonia, neonatal and later

•

en:hypotonia (families a and b)

•

en:imaging shows progressive fatty infiltration of muscle

•

en:increased fat and fibrous tissue

•

en:increased fibrosis (in some patients)

•

en:lack of facial subcutaneous fat

•

en:distal muscle weakness due to peripheral neuropathy

•

en:distal muscle weakness may occur

•

en:abnormal jitter seen on emg

•

en:distal muscle wasting due to peripheral neuropathy

•

en:biopsy shows dystrophic changes

•

en:loss of ambulation

•

en:weak extraocular muscles

•

en:abnormal distribution of subcutaneous fat

•

en:abnormal mitochondrial morphology

•

en:aggregates contain granular electron-dense material

•

en:amyotrophy, distal, upper and lower limbs

•

en:amyotrophy (1 patient)

•

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

•

en:attacks precipitated by cold temperature

•

en:chronic fatigable muscles

•

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

•

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

•

en:cranial muscles spared

•

en:decreased mitochondrial complex v activity

•

en:decreased postsynaptic folding at the neuromuscular junction

•

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

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:difficulty rising from a squatting position

•

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

•

en:distal lower limb muscle weakness and atrophy

•

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

•

en:lipid droplet accumulation

•

en:weakness

•

en:loss of subcutaneous fat

•

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

•

en:sarcoplasmic inclusions

•

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

•

en:shoulder girdle weakness

•

en:shoulder weakness

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:some patients become wheelchair-dependent

•

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

•

en:stiffness

•

en:subsarcolemmal mitochondrial aggregates

•

en:reduced subcutaneous adipose tissue

•

en:tendon tears

•

en:thick palmar fascia

•

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

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:variation in skeletal muscle fiber diameter

•

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

•

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

•

en:z-disks with abnormal homogeneous material

•

oedème de la face

•

en:dysphagia

•

en:relative sparing of the tibialis anterior

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:lymphography shows hypoplasia of lymphatic vessels

•

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

•

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

•

en:muscle

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

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

•

en:muscle biopsy shows variation in fiber size

•

en:muscle cramps may affect jaw muscles

•

en:muscle fatigue

•

en:muscle pain (in some patients)

•

en:muscle weakness, episodic

•

en:muscle weakness, variable

•

en:myopathy (in some patients)

•

en:ragged-red muscle fibers

•

en:necrosis

•

en:neurogenic atrophy

•

en:nonspecific myopathic changes

•

en:normal or increased truncal adipose tissue

•

en:onset of lymphedema around puberty

•

en:predominantly lower limb lymphedema

•

en:progressive distal and proximal symmetric limb weakness

•

en:progressive loss of facial adipose tissue

•

en:proximal limb muscle weakness initially

•

en:proximal muscle weakness

•

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

◀

Génériques

[F] [H]

›

en:difficulty

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119538 • caches: c1=14 c2=1191 c3=188

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