Diko : en:distal myopathy (in 1 family)

en:distal myopathy (in 1 family)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3552386

Associations d'idées

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1000

en:skeletal muscle biopsy shows fat droplets in sarcoplasm and mitochondria

•

en:increased adipose fibrosis

•

en:myosin storage myopathy (in some patients)

•

en:congenital muscular dystrophy (disorder)

•

en:cranial muscles spared

•

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

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

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

•

en:increased mitochondria seen on muscle biopsy

•

en:muscle wasting, progressive

•

en:myopathic features seen on biopsy

•

en:poor exercise tolerance

•

en:exercise intolerance (cvs+)

•

en:increased centralized internal nuclei

•

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

•

en:muscle weakness, severe, axial and proximal predominance

•

en:cellulitis due to immunodeficiency

•

en:difficulty climbing stairs, jumping, running

•

en:edema of lower extremity

•

en:endomysial fibrosis

•

en:hematoma

•

en:muscle aches, cramps

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle pain (less common)

•

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

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:some patients never achieve ambulation

•

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

•

en:calf pseudohypertrophy rare

•

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

•

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

•

en:rupture of muscle

•

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

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:distal muscle weakness, occurs initially

•

en:localized cellulitis

•

en:lymphedema, hands (rare)

•

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

•

en:muscle hematoma

•

en:generalized hypotonia

•

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

•

en:z-disks with abnormal homogeneous material

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

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

•

en:non-pitting edema

•

en:autophagosome

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:lipid droplets seen on muscle biopsy

•

en:muscle pain with exercise (in older patients)

•

en:abnormal jitter seen on emg

•

en:extensive fatty infiltration on biopsy

•

en:increased muscle tone (early in life)

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:muscle spasm

•

en:muscle weakness, mild, proximal and distal

•

en:protein aggregates immunopositive for actin and desmin

•

en:tubular aggregates in muscle fibers may occur

•

en:fat accumulation in the suprabuttock area

•

en:muscle weakness, mainly proximal and axial

•

en:large lipid droplets

•

en:generalized weakness (adult-onset)

•

en:fat pad anterior to malleolus

•

en:cox-negative fibers

•

en:emg may show neurogenic changes

•

en:electron microscopy showed z-disk streaming

•

en:no lipodystrophy in face and neck

•

en:acute rhabdomyolysis

•

en:myofibrillar lesions

•

en:gluteus maximus and thigh adductors most affected

•

en:proximal muscle weakness, less severe

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

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

•

en:type 2 fiber atrophy see on biopsy

•

en:scapuloperoneal weakness

•

en:scapuloperoneal amyotrophy

•

en:myopathy

•

en:hypertonia

•

en:emg shows polyphasic continuous motor unit discharges

•

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

•

en:decreased cytochrome c oxidase activity

•

en:aggregates contain granular electron-dense material

•

en:abnormal aggregation of mitochondria

•

en:weakness of neck extensors (rare)

•

en:centralized nuclei may be seen

•

en:glycogen depletion in skeletal muscle

•

en:increased connective tissue

•

en:painful muscle cramps

•

en:tubular aggregates seen on biopsy

•

en:biceps brachii atrophy

•

en:calf atrophy (later onset)

•

en:muscle atrophy restricted to the upper limb

•

en:myogenic profile on electromyography

•

en:smooth muscle may also become involved

•

en:wasted lower leg muscles

•

en:mitochondrial dna deletions (in some patients)

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsies show variation in fibrodiameter, internal nuclei, atrophy of type i fibers, focal loss of cross- striations, and cores of myofibrillar disruption with associated absence of mitochondria

•

en:progressive distal muscle weakness

•

en:lipoma

•

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

•

en:generalized muscle hypertrophy

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:myopathic changes early in disease seen on emg

•

en:muscle weakness (type i)

•

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

•

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

•

en:muscle weakness lower limb

•

en:muscle fiber splitting

•

en:limb-girdle muscle weakness (2 families)

•

en:increased muscle tone in the lower limbs

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:decreased adipose tissue around neck

•

en:decreased achr at the endplate

•

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

•

en:relative sparing of the tibialis anterior

•

en:tubulofilamentous nuclear or cytoplasmic inclusions (15-18 nm)

•

en:muscle weakness usually does not occur

•

en:ankle edema (finding)

•

en:biopsy shows defects in pyruvate oxidation

•

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

•

en:decreased muscle mass, especially distally

•

en:granular deposits in the sarcomeres

•

en:hang weakness

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle weakness restricted to the upper limb

•

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

•

en:umbilical hernia

•

en:muscle fibers may contain abnormal polysaccharide

•

en:calf muscle hypertrophy

•

en:no muscle fiber necrosis

•

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

•

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

•

en:muscle biopsy shows myofibrillar changes

•

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

•

en:hypertonicity of the lower limbs

•

en:decreased coenzyme q10

•

en:no dystrophic changes

•

en:proximal muscle weakness (in some patients)

•

en:proximal muscles more often affected

•

en:prominent involvement of the biceps brachii muscles

•

en:muscle hypertrophy

•

en:positive staining for slow myosin heavy chain

•

en:poor musculature

•

en:percussion myotonias

•

en:myopathy (rare)

•

en:normal or increased facial and neck adipose tissue

•

en:neurogenic changes later in disease seen on emg

•

en:nemaline bodies are rarely intranuclear

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:muscle weakness, upper and lower limbs

•

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

•

en:muscle hypertrophy in affected area

•

en:rhabdomyolysis (in some patients)

•

en:quadriceps aplasia

•

en:angular atrophic fibers

•

en:ring fibers

•

en:weakness may be exacerbated by illness or stress

•

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

•

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

•

en:atrophic fibers

•

en:muscle fibers appear as fetal myotubules

•

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

•

en:absence of laminin alpha-2 chain in muscle

•

en:wide variation in fiber size

•

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

•

en:secondary myopathic changes

•

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

•

en:type 2 fiber hypertrophy

•

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

•

en:tortuous lymphatic tracts

•

en:subsarcolemmal mitochondrial aggregates

•

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

•

en:short and thickened z-discs

•

en:severely decreased or absent lamp2 protein

•

en:muscle fiber atrophy, profound (rare)

•

en:increased lipid droplets and abnormal mitochondria

•

en:muscle cramps, painful, recurrent

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:exercise-induced muscle cramps

•

en:emg shows myopathic or neurogenic changes

•

en:easy fatigability

•

en:easily fatigued (finding)

•

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

•

en:distal lower limb anterior compartment weakness

•

en:difficulty raising arms

•

en:decreased muscle mass (especially of limbs)

•

en:facial muscle atrophy of involved side

•

en:decreased collagen vi

•

en:decreased achilles reflex

•

en:congophilic amyloid material

•

en:chronic denervation seen on emg

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophy of shins

•

en:anterior tibial muscles first involved

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:fatty replacement

•

en:muscle biopsy shows type 2 fiber atrophy (see details under neurologic heading)

•

en:mild decrease in mitochondrial respiratory chain activity

•

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

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

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

•

en:muscle atrophy

•

en:mitochondrial proliferation

•

en:minipolymyoclonus

•

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

•

en:mildly decreased cytochrome c oxidase activity

•

en:fiber type grouping

•

en:may have proximal muscle weakness later in the disease

•

en:low maximum workload on exercise testing

•

en:loss of ability to walk in early childhood

•

en:jitter

•

en:increased muscle lipid content

•

en:imaging shows muscle atrophy and fatty replacement

•

en:hypothenar muscle atrophy

•

en:hyaline inclusion

•

en:berardinelli-seip congenital lipodystrophy

•

en:increased endomysial fibrosis

•

en:biopsy shows myopathic and dystrophic changes

•

en:muscle weakness and atrophy, proximal

•

en:normal or increased truncal adipose tissue

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:vacuolar myopathy

•

en:nemaline rods may be observed

•

en:nemaline bodies

•

en:myopathy (in some patients)

•

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

•

en:muscle weakness and atrophy, distal

•

en:predominance of oxidative fibers

•

en:muscle weakness (in some patients)

•

en:muscle weakness, variable

•

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

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle stiffness (in older patients)

•

en:muscle hypertrophy may occur

•

en:muscle cramps at rest

•

en:muscle cramp

•

en:no facial muscle involvement

•

en:premature exertional muscle weakness

•

en:muscle biopsy shows preserved junctional folds

•

en:skeletal muscle weakness

•

en:casq1-immunopositive inclusions

•

en:upper limb muscle hypoplasia

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:tetany

•

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

•

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

•

en:small and incompletely fused muscle fibers seen on biopsy

•

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

•

en:preserved heel standing

•

en:shoulder muscle weakness

•

en:severe muscle hypotonia at birth

•

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

•

en:rhabdomyolysis

•

en:proximal muscle weakness in lower limbs

•

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

•

en:proximal muscles may be mildly affected

•

en:progressive distal and proximal symmetric limb weakness

•

en:muscle biopsy shows small rounded fibers

•

en:pelvic muscle involvement occurs later

•

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

•

en:distal lower limb amyotrophy

•

en:fragmented mitochondrial network

•

en:finger and wrist extensor weakness

•

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

•

en:enteroviral dermatomyositis syndrome

•

en:emg shows high-frequency spontaneous discharges

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:distal muscles may be affected

•

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

•

en:hand and foot weakness

•

en:deltoid muscle hypoplasia

•

en:decreased mitochondria

•

en:decreased complex i activity (rare)

•

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

•

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

•

en:cox-depleted fibers

•

en:muscle biopsy shows myofibrillar myopathy

•

en:cores contain densely packed myofilaments

•

en:generalized muscle wasting

•

en:dystrophic changes occur later

•

en:hip girdle muscle weakness (usually presenting symptom)

•

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

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

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

•

en:muscle biopsy may show mild kinetic abnormalities of the achr

•

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

•

en:multiple mitochondrial dna deletions

•

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

•

en:marked muscular hypertrophy

•

en:lymphedema, dorsa of feet

•

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

•

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

•

en:lower limbs more affected than upper limbs

•

en:lipohypoplasia, regional

•

en:large hypertrophied fibers

•

en:infantile axial hypotonia

•

en:increased staining for myotilin, dystrophin, desmin

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypertonia late

•

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

•

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

•

en:muscle weakness is predominantly of extremities and tongue

•

en:neonatal hypotonia

•

en:neck muscle weakness

•

en:necrotic change

•

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

•

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

•

en:muscle hypertrophy of the lower extremities

•

en:limb-girdle muscle atrophy

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows centralized nuclei

•

en:muscle atrophy, progressive

•

en:muscle activity is electrically silent on emg

•

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

•

en:many fibers with internal nuclei

•

en:loss of subcutaneous fat, generalized

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:normal muscle fiber (hcs)

•

en:normal lamp2 staining (309060)

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:normal or decreased facial and neck adipose tissue

•

en:ragged red fibers (in some patients)

•

en:inguinal hernia

•

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

•

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

•

en:tubular aggregates seen on muscle biopsy

•

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

•

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

•

en:reduced lower limb subcutaneous fat

•

en:rare necrotic fibers

•

en:proximal upper limb amyotrophy

•

en:no muscle weakness

•

en:proximal muscle weakness, lower limbs, mild

•

en:prominent veins, lower limbs

•

en:positive staining for atpase activity at ph of 4.3

•

en:polyglucosan accumulation

•

en:phagocytic vacuoles with degraded membranous material

•

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

•

en:pectoralis hypoplasia

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

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

•

en:infantile muscular hypotonia

•

en:decreased caveolae in muscle tissue

•

en:distal amyotrophy

•

en:disorganized myofilaments seen on muscle biopsy

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial complex v activity

•

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

•

en:decreased cytochrome c oxidase staining

•

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

•

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

•

en:dystrophic changes on biopsy

•

en:broad-based gait

•

en:bilateral facial weakness (congenital form)

•

en:axial muscle weakness

•

en:attacks relieved by potassium administration

•

en:attacks precipitated by cold temperature

•

en:affected muscles show atrophy

•

en:abnormal axons with sprouting and swelling

•

en:abdominal wall muscle weakness (later onset)

•

en:distal muscle atrophy due to neuropathy

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:increased muscle tone at birth

•

en:gait disturbance

•

en:increased endo- and perimysial connective tissue

•

en:hyporeflexia of lower limbs

•

en:hyporeflexia

•

en:hypertonicity (uncommon)

•

en:hip abductor weakness and atrophy

•

en:hamstring and quadriceps muscles mildly affected

•

en:generalized muscle weakness

•

en:generalized amyotrophy

•

en:gait, drop foot

•

en:edema at birth

•

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

•

en:fibrillation

•

en:fatty infiltration of affected muscles

•

en:fatigue

•

en:facial diplegia

•

en:exertional leg pain

•

en:emg shows increased insertion activity and fibrillation

•

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

•

en:'hanging' big toe

•

en:abdominal muscle hypoplasia

•

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

•

en:muscle cramps (also seen in some heterozygotes)

•

en:nonspecific muscle fiber atrophy

•

en:neurogenic changes

•

en:neurogenic abnormalities seen on emg

•

en:neck muscle hypoplasia

•

en:myotonia is usually not seen

•

en:myopathy, mild to severe

•

en:myopathic changes seen on biopsy

•

en:muscle pain after exercise

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:patients achieve independent ambulation, but may lose it

•

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

•

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

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle aches, intermittent

•

en:mitochondrial paracrystalline inclusion bodies

•

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

•

en:minimal subcutaneous fat

•

en:normal sensation

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:loss of sarcomeric striations

•

en:severe muscular hypotonia

•

en:weakness and wasting of the lower limbs

•

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

•

en:ambulation difficulty

•

en:tibialis anterior muscle affected

•

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

•

en:small, angulated muscle fibers seen on muscle biopsy

•

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

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:rimmed vacuoles with basophilic granular material

•

en:poor muscle mass

•

en:relatively preserved limb strength

•

en:reduced ankle dorsiflexion

•

en:quadriceps atrophy

•

en:proximal weakness

•

en:proximal limb muscle weakness initially

•

en:progressive loss of facial adipose tissue

•

en:progression to proximal muscle weakness

•

en:postexercise cmap amplitude facilitation

•

en:lymphangitis, episodic

•

en:trunk muscle atrophy

•

en:loss of ambulation between third and sixth decade

•

en:decreased glycosylation of alpha-dystroglycan

•

en:dystrophic changes seen on muscle biopsy

•

en:distal muscle weakness occurs later

•

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

•

en:difficulty walking and climbing stairs

•

en:difficulty rising from a squatting position

•

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

•

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

•

en:decreased numbers of type 2b fibers

•

en:decreased activity of mitochondrial complex i

•

en:edema

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:deafferentation

•

en:calf muscle pseudohypertrophy

•

en:calf muscle discomfort

•

en:axial muscle hyperextension, episodic

•

en:atrophy of type 1 and type 2 fibers

•

en:atrophy, mild (in some cases)

•

en:loose connective tissue

•

en:easy fatigability with exercise

•

en:atrophy of the intrinsic foot and hand muscles

•

en:edema (hands and feet)

•

en:hyaline plaques with absent oxidative activity

•

en:edema of dorsum of hands and feet

•

en:inflammatory cells absent

•

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

•

en:increased internal nuclei

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased echo intensity in affected muscles

•

en:hypotonia, infantile, severe

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:increased variation in muscle fiber diameter

•

en:haemorrhage subcutaneous

•

en:fat pad between achilles tendon and medial malleolus

•

en:generalized muscle contractions, episodic

•

en:emg shows myopathic features

•

en:fatty degeneration of muscle seen on mri

•

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

•

en:fibrillations in affected muscles

•

en:frontalis muscle weakness

•

en:gait unsteady

•

en:generalized amyoplasia

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:myopathy, mild

•

en:myofibromatosis

•

en:myalgia (in some patients)

•

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

•

en:muscle weakness may affect upper limbs

•

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

•

en:muscle fatigability

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle coenzyme q deficiency

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle biopsy shows nonspecific myopathic changes

•

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

•

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

•

en:muscle atrophy, severe

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mitochondrial swelling

•

en:mitochondrial myopathy, severe

•

en:neurogenic atrophy seen on muscle biopsy

•

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

•

en:onset of lymphedema around puberty

•

en:soft tissue vascular malformations

•

en:loss of lower-limb tendon reflexes

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:type 1 fiber predominance seen on muscle biopsy

•

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

•

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

•

en:thick palmar fascia

•

en:spasticity

•

en:small rounded fibers

•

en:painful swelling in fasciae

•

en:small endplate

•

en:signs of denervation seen on biopsy

•

en:shoulder weakness

•

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

•

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

•

en:quadriceps weakness

•

en:proximal lower limb amyotrophy

•

en:patchy muscle fiber degeneration

•

en:lower and upper limbs affected

•

en:distal limb muscle weakness occurs later

•

en:limb-girdle muscular dystrophy

•

en:centrally nucleated skeletal muscle fibers

•

en:degenerative changes with increased connective tissue

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:decreased thiamine pyrophosphate

•

en:decreased muscle density on imaging

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

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

•

en:cytochrome-c oxidase deficiency

•

en:calf muscle enlargement

•

en:distal limb muscle atrophy (less common)

•

en:calf hypertrophy (early in the disease)

•

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

•

en:biopsy shows myopathy without vacuoles

•

en:areflexia due to muscle weakness

•

en:angioedema

•

en:absence of telethonin protein

•

en:abnormal mitochondria

•

en:abnormal aggregates of desmin and filamin c

•

en:denuded postsynaptic regions

•

en:duchenne muscular dystrophy (dmd, 310200) in 'complex' form

•

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

•

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

•

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

•

en:increased centralized nuclei

•

en:inclusions are dnajb6-immunoreactive

•

en:hypotonia (in some patients)

•

en:hypotonia, axial, severe

•

en:hypoplasia of supraspinatus muscle

•

en:histochemically normal type-ii muscle fibers

•

en:generalized limb muscle atrophy

•

en:dysphagia

•

en:frequent falls

•

en:fibromyalgia

•

en:fatty deposition

•

en:fasciculations (in some patients)

•

en:facial muscle weakness and atrophy, progressive

•

en:emg shows myopathy

•

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

•

en:dystrophic changes

•

en:variability in fiber size

•

en:myalgia with febrile episodes (rare)

•

en:abnormal fiber size variation seen on muscle biopsy

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:myotonia is most pronounced in the extremities

•

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

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle biopsy shows mild dystrophic changes

•

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

•

en:muscle biopsy shows fiber type disproportion

•

en:necrotic fibers

•

en:muscle biopsy shows decreased secondary clefts

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscle atrophy (type i)

•

en:muscle atrophy, diffuse, severe

•

en:muscles have a woody consistency on palpation

•

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

•

en:minicores or core-like regions may be present

•

en:necrosis and degeneration seen on muscle biopsy

•

en:neonatal hypertonias

•

en:mallory-like bodies

•

en:subcutaneous fat markedly reduced

•

en:abnormal iron deposition in mitochondria

•

en:mental retardation, autosomal recessive 5

•

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

•

en:weakness of ankle plantar flexion

•

en:ubiquinone decreased

•

en:tubulofilamentous inclusions

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:skeletal muscle damage

•

en:no myofibrillar abnormalities or protein aggregation

•

en:skeletal muscle biopsy shows misplaced mitochondria

•

en:secondary loss of sarcolemmal caveolin-3

•

en:ragged-red fibers on muscle biopsy

•

en:proximal myopathy

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal muscle weakness, limb-girdle distribution

•

en:proximal muscle weakness

•

en:pharyngeal muscle weakness

•

en:minicores (in some)

•

en:vacuolar degeneration

•

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

•

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

•

en:emg may show myopathic features

•

en:edema, subcutaneous, generalized

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy due to neurologic disease

•

en:disruption plasma membrane (in some patients)

•

en:difficulty walking up stairs

•

en:delayed motor development (cvs+)

•

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

•

en:emg shows neurogenic changes

•

en:decreased density of calcium release units

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:axial weakness

•

en:atrophy of neck muscles may occur later

•

en:apoptotic nuclei

•

en:acetazolamide may worsen symptoms

•

en:absence of collagen vi immunostaining

•

en:lymphedema of the extremities

•

en:emg shows myopathic pattern

•

en:adhalin deficiency seen on muscle biopsy

•

en:exercise-induced muscle fatigue

•

en:increased focal mitochondrial density

•

en:loss of facial adipose tissue

•

en:fatty infiltration

•

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

•

en:involves upper and lower proximal muscles

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased lipid

•

en:increased intraabdominal fat

•

en:lack of facial subcutaneous fat

•

en:impaired toe-walking

•

en:foot dorsiflexor weakness

•

en:hypotonia

•

en:hyporeflexia or areflexia

•

en:hypoplastic deltoids

•

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

•

en:generalized muscle weakness, proximal and distal

•

en:fat pads on the hands and feet

•

en:hypotrophy of type 1 fibers

•

en:myositis (in some patients)

•

en:myopathic pattern on emg

•

en:myasthenias

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, predominantly proximal

•

en:muscle biopsy shows myofibrillar disruption

•

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

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

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

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows grouped atrophy

•

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

•

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

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:myotonia is present in majority of cases

•

en:retroperitoneal fibrosis (rare)

•

en:nerve conduction studies normal

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:soft fleshy palms (50%)

•

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

•

en:skeletal muscle may show less severe mtdna deletion

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

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

•

en:skeletal muscle biopsy shows decreased cytochrome c oxidase activity

•

en:shortening of various muscle-tendon groups in feet

•

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

•

en:secondary loss of merosin and desmin

•

en:sarcomere disappearance seen on muscle biopsy

•

en:progressive proximal muscle weakness

•

en:presynaptic defect at the neuromuscular junction

•

en:plantar fibromatosis

•

en:pelvic girdle weakness and atrophy

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:mtdna deletions seen on muscle biopsy

•

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

•

en:minicores extend full fiber diameter

•

en:calf muscle weakness

•

en:decreased distal reflexes

•

en:decreased activity of mitochondrial complex iii

•

en:cox-deficient fibers

•

en:cores or minicores

•

en:coenzyme q10 deficiency

•

en:central nuclei

•

en:calf hypertrophy (uncommon)

•

en:decreased or absent ankle reflexes

•

en:autophagic rimmed vacuoles

•

en:atrophy of upper girdle muscles

•

en:angulated fibers

•

en:amorphous granulofilamentous material associated with z-discs

•

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

•

en:absence of gamma-sarcoglycan protein

•

en:swelling of the extremities, episodic

•

en:decreased muscle mass in the thighs

•

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

•

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

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:lymphedema

•

en:loss of subcutaneous adipose tissue in limbs

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:lipodystrophy (in some patients)

•

en:lipid accumulation in muscle tissue

•

en:internal nuclei seen on muscle biopsy

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:difficulty walking, running, climbing stairs

•

en:fetal akinesia deformation sequence

•

en:exercise-induced muscle stiffness

•

en:emg shows reduction of voluntary recruitment

•

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

•

en:distal muscle weakness

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:distal limb atrophy (upper and lower)

•

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

•

en:decreased coenzyme q10 content

•

en:tubular aggregates (in some patients)

•

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

•

en:muscle biopsy shows sarcoplasmic or subsarcolemmal vacuoles in muscle fibers

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

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

•

en:muscle atrophy in the limbs

•

en:muscle atrophy, primarily in the legs

•

en:mtdna depletion seen on muscle biopsy

•

en:motor clumsiness

•

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

•

en:mitochondrial myopathy

•

en:mitochondrial dna deletion (1 patient)

•

en:mild variability in muscle fiber size

•

en:merosin-positive biopsy

•

en:low muscle mass

•

en:lipoatrophy of trunk

•

en:leg cramps may occur with exercise

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

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

•

en:hypotonia at birth

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:upper and/or lower limbs may be affected

•

en:z-disk degeneration

•

en:z-band streaming

•

en:weakness

•

en:type 1 fiber predominance

•

en:type 1 fiber atrophy

•

en:structurally abnormal mitochondria

•

en:rhabdomyolysis, episodic and recurrent

•

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

•

en:reduced subcutaneous adipose tissue

•

en:proximal amyotrophy

•

en:poor sarcomeric structure (in some patients)

•

en:painful swelling in aponeuroses

•

en:nonspecific myopathy

•

en:nemaline myopathy (in 1 reported male)

•

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

•

en:increased lysosomal glycogen

•

en:muscle weakness, proximal greater than distal

•

en:hypotonia, mild (1 patient)

•

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

•

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:congenital fiber-type disproportion

•

en:cold sensitivity has been reported

•

en:central cores seen on muscle biopsy

•

en:centrally located nuclei seen on muscle biopsy

•

en:upper limb involvement occurs later or not at all

•

en:asymmetric muscle involvement

•

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

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:absence of some scapular muscles (less common)

•

en:abnormal mitochondria in skeletal muscle biopsy

•

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

•

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

•

en:usually a unilateral disorder

•

en:heterotopic bone formation in subcutaneous fat

•

en:decreased activities of complexes i and iv

•

en:buffalo hump

•

en:fiber type variation seen on biopsy

•

en:emg - repetitive muscle discharges

•

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

•

en:gowers sign

•

en:glycogen deficiency in muscle fibers

•

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

•

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

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows myotonic changes

•

en:dystrophic features seen on muscle biopsy

•

en:distal muscle weakness, upper and lower limbs

•

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

•

en:difficulty running

•

en:diastasis recti

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:gowers sign present

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:nemaline rods (rare)

•

en:nuclear clumps

•

en:muscle biopsy shows poor development of the postsynaptic membrane

•

en:poor muscle bulk

•

en:progression to wheelchair in fourth decade

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:necrotic and regenerating fibers

•

en:necrotic process

•

en:muscle fibers contain internal nuclei

•

en:myopathy, nonprogressive

•

en:myopathic changes seen on emg of affected muscle

•

en:myokymia

•

en:myofibrillar disintegration

•

en:muscle weakness associated with fasting or infection

•

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 biopsy shows rimmed vacuoles

•

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

•

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

•

en:proximal muscle weakness occurs later

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:muscle biopsy shows myopathic changes

•

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

•

en:abnormalities in myofibril organization

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:vacuolar myopathy may occur

•

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

•

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

•

en:type 1 muscle fiber predominance

•

en:triceps weakness

•

en:reduced muscle mass

•

en:thenar amyotrophy (rare)

•

en:superior rectus atrophy

•

en:sparing of the anterior tibial compartment

•

en:sparing of anterior tibialis muscle

•

en:skeletal muscle biopsy shows reducing bodies

•

en:shortening of flexor profundus muscle-tendon unit

•

en:sarcoplasmic inclusions

•

en:rhabdomyolysis may occur

•

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

•

en:complex v deficiency

•

en:muscle biopsy shows mitochondrial aggregates

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:emg shows fibrillation potentials

•

en:emg shows fasciculations

•

en:edematous hands and feet (1 patient)

•

en:distal muscle weakness due to peripheral neuropathy

•

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

•

en:distal lower limb muscle weakness and atrophy

•

en:difficulty running and jumping

•

en:delayed ambulation

•

en:decreased ability to run

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:cytoplasmic inclusion bodies (finding)

•

en:congenital absence of gluteal muscles

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

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

•

en:axial hypotonia (in some patients)

•

en:atrophic calf muscles

•

en:absence of pectoralis minor muscle

•

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

•

en:emg shows neurogenic changes consistent with denervation

•

en:evidence of lymphatic rerouting

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle biopsy shows dystrophic pattern

•

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

•

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

•

en:muscle atrophy appears later in disease course

•

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

•

en:motor developmental delay

•

en:mild weakness

•

en:lymphedema (lower limb)

•

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

•

en:loss of ambulation (in some patients)

•

en:lipoatrophic appearance

•

en:lack of integrin alpha-7 staining

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased subcutaneous truncal adipose tissue

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:hypoactive gag reflex

•

en:gastrocnemius and soleus muscles most affected

•

en:foot extensor muscle weakness (later onset)

•

en:abnormal mitochondrial morphology

•

en:fiber size variation seen on muscle biopsy

•

en:amyotrophy, neurogenic

•

en:muscle weakness and atrophy may be asymmetric

•

en:primarily affects lower limbs

•

en:poor muscle build

•

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

•

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

•

en:painful adipose tissue

•

en:calf hypertrophy (in some patients)

•

en:normal neonatal period may occur before weakness is apparent

•

en:muscle weakness due to peripheral neuropathy

•

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

•

en:prominent musculature

•

en:muscle weakness, limb-girdle, mild

•

en:muscle weakness, episodic

•

en:muscle strength and bulk is preserved

•

en:muscle pain and cramps following exercise

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

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

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows neurogenic changes

•

en:prominent involvement of the quadriceps femoris muscles

•

en:proximal and distal muscle atrophy in lower limbs

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:thenar eminence hypoplasia

•

oedème du visage

•

faiblesse de muscle

•

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

•

en:weakness of neck muscles may occur later

•

en:weakness of all intrinsic hand muscles (later)

•

en:variable fiber size

•

en:vacuoles are autophagocytic

•

en:unable to walk

•

en:tendon tears

•

en:proximal muscle weakness (85% of patients)

•

en:subsarcolemmal mitochondrial accumulation

•

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

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:severe disability within 20 years of onset

•

en:respiratory distress (congenital form)

•

en:recovery between attacks

•

en:quadriceps muscle spared

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:muscle biopsy shows nemaline rods

•

en:no staining for periodic acid schiff (pas)

•

en:muscle biopsy shows abnormal mitochondria

•

en:distal muscle wasting due to peripheral neuropathy

•

en:facial muscle weakness

•

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

•

en:emg shows chronic denervation

•

en:electromyogram normal

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:dysphonia

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:distal muscle weakness, mild

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:fiber necrosis

•

en:disruption of the m-line

•

en:decreased muscle bulk

•

en:muscle

•

en:decreased caveolin-3 expression on muscle biopsy

•

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

•

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

•

en:contractures of distal lower limbs

•

en:centralized nuclei, rare

•

en:fasciculations (less common)

•

en:decreased mtdna

•

en:generalized neonatal hypotonia

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:gluteal hypoplasia

•

en:mri may show cervical spinal cord atrophy

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:loss of subcutaneous fat

•

en:loss of independent ambulation around age 12 years

•

en:limb weakness and atrophy

•

en:limb muscle weakness, proximal, upper and lower

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:increased fiber size variability

•

en:inability to run

•

en:impaired heel-walking

•

en:imaging shows progressive fatty infiltration of muscle

•

en:hypotonia (patient a)

•

en:hyporeflexia in affected muscles

•

en:hypoplasia of serratus anterior muscle

•

en:hamstring muscle affected

•

en:inclusions are tdp43-immunoreactive

•

en:grip strength decreased

•

en:muscular dystrophy (in some patients)

•

en:paracrystalline inclusions

•

en:onset of weakness in hands and feet

•

en:nonspecific myopathic changes seen on biopsy

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myofibrillar disorganization

•

en:muscle hypertrophy (meb)

•

en:muscular appearance

•

en:muscle weakness of limb

•

en:muscle weakness increases with age

•

en:muscle weakness

•

en:muscle fatigue

•

en:muscle biopsy shows neurogenic atrophy

•

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

•

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

•

en:sparing of small hand and finger muscles

•

en:proximal muscle weakness, mild

•

en:red-ragged fibers (2p21del)

•

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

•

en:rhabdomyolysis with exercise (in older patients)

•

en:rimmed vacuoles

•

en:scapular muscle atrophy

•

en:secondary hypertrophy

•

en:shoulder girdle weakness

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:slowly progressive limb-girdle myopathy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:transient neonatal hypotonia (less common)

•

en:type 2 muscle fiber predominance

•

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

•

en:walking delay

•

en:muscle biopsy shows loss of myofibrillar organization

◀

Génériques

[F] [H]

›

en:distal

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118106 • caches: c1=36 c2=1443 c3=316

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