Diko : en:muscle stiffness (in older patients)

en:muscle stiffness (in older patients)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1860064

Associations d'idées

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1000

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

•

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

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:distal lower limb anterior compartment weakness

•

en:hypotonia, mild

•

en:imaging shows progressive fatty infiltration of muscle

•

en:lipoatrophy, generalized

•

en:loss of sarcomeric striations

•

en:muscle cramps at rest

•

en:lymphedema (lower limb)

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:attacks relieved by potassium administration

•

en:difficulty walking

•

en:exercise-induced muscle stiffness

•

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

•

en:haemorrhage subcutaneous

•

en:increased echo intensity in affected muscles

•

en:neuropathic process seen on muscle biopsy

•

en:myopathy, mild

•

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

•

en:decreased thiamine pyrophosphate

•

en:hypotonia, generalized (in some patients)

•

en:muscle strength and bulk is preserved

•

en:muscle weakness and atrophy

•

en:frequent falls

•

en:nonspecific muscle fiber atrophy

•

en:decreased achr

•

en:fatigue

•

en:increased fiber size variability

•

en:neurogenic atrophy seen on muscle biopsy

•

en:muscle activity is electrically silent on emg

•

en:muscle fiber splitting

•

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

•

en:reduced muscle strength (in some patients)

•

en:distal muscle weakness occurs later

•

en:shoulder weakness and atrophy

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:loss of facial adipose tissue

•

en:hypertonia late

•

en:gastrocnemius and soleus muscles most affected

•

en:electromyographic decrements in some muscles

•

en:emg shows reduction of voluntary recruitment

•

en:gait abnormalities (occurs later)

•

en:fragmented mitochondrial network

•

en:rigidity (uncommon)

•

en:weakness and wasting of the lower limbs

•

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

•

en:signs of denervation seen on biopsy

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:rectus fascia separation

•

en:onset of lymphedema around puberty

•

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

•

en:mitochondria dna deletion

•

en:muscle weakness, proximal, limb-girdle

•

en:abnormally long mitochondria seen on muscle biopsy

•

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

•

en:degenerating fibers

•

en:distal leg muscle atrophy

•

en:leg edema

•

en:marked lack of adipose tissue

•

en:muscle weakness increases with age

•

en:pelvic girdle weakness and atrophy

•

en:hyperactive deep tendon reflexes

•

en:mri may show cervical spinal cord atrophy

•

en:muscle biopsy shows centralized nuclei

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:no muscle fiber necrosis

•

en:variation in skeletal muscle fiber diameter

•

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

•

en:a subset of patients develop bilateral weakness

•

en:abnormal z bands

•

en:decremental response on 3-hz repetitive nerve stimulation

•

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

•

en:dystrophic features

•

en:increased endomysial fibrosis

•

en:myalgia, episodic

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

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

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:muscle weakness restricted to the upper limb

•

en:thick palmar fascia

•

en:degenerating nerve terminals

•

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

•

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

•

en:sparing of small hand and finger muscles

•

en:limb weakness, proximal followed by distal

•

en:increased focal mitochondrial density

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:flaccid weakness or paralysis, episodic attacks

•

en:decreased cytochrome c oxidase activity

•

en:muscle hypertonia

•

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

•

en:emg shows chronic denervation

•

en:generalized muscle weakness, proximal and distal

•

en:hamstring and quadriceps muscles mildly affected

•

en:hyaline plaques with absent oxidative activity

•

en:limb muscular atrophy

•

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

•

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

•

en:low muscle mass

•

en:muscle weakness and atrophy, progressive

•

en:skeletal muscle biopsy shows reducing bodies

•

en:vacuolar myopathy may occur

•

en:atrophic fibers seen on biopsy

•

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

•

en:emg shows myopathic pattern

•

en:fat pad between achilles tendon and medial malleolus

•

en:histochemically normal type-ii muscle fibers

•

en:lack of integrin alpha-7 staining

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:muscle weakness is not a feature

•

en:arm/shoulder muscle hypoplasia

•

en:proximal muscle weakness (in some patients)

•

en:poor exercise tolerance

•

en:distal muscle atrophy due to neuropathy

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle biopsy shows dystrophic features

•

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

•

en:atrophy of the intrinsic foot and hand muscles

•

en:decreased caveolae in muscle tissue

•

en:attacks may present during or after sleep

•

en:electromyogram normal

•

en:muscle biopsy shows mild dystrophic changes

•

en:soft fleshy palms (50%)

•

en:small type ii fibers

•

en:ring fibers

•

en:muscle weakness and atrophy, proximal

•

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

•

en:mtdna depletion seen on muscle biopsy

•

en:mild variability in muscle fiber size

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:extensive fatty infiltration on biopsy

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:edema of dorsum of hands and feet

•

en:lipohypoplasia, regional

•

en:muscle

•

en:myofibrillar lesions

•

en:thickened subcutaneous tissue

•

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

•

en:cores contain densely packed myofilaments

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:myoclonic spasms

•

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

•

en:slowly progressive limb-girdle myopathy

•

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

•

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

•

en:muscle wasting due to chronic denervation

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle cramps may affect jaw muscles

•

en:muscular dystrophy

•

en:muscle weakness, distal more than proximal

•

en:muscle weakness, proximal more than distal

•

en:muscle weakness due to peripheral neuropathy

•

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

•

en:muscular stiffness

•

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

•

en:muscle biopsy shows chronic and active denervation

•

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

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:loss of ambulation between third and sixth decade

•

en:muscle atrophy (in some patients)

•

en:muscle aches, intermittent

•

en:mitochondrial proliferation

•

en:mitochondrial dna deletions (in some patients)

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:lymphedema of the extremities

•

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

•

en:myopathic changes on pathology

•

en:myasthenic syndrome (hcs)

•

en:proximal muscle weakness (120270.0002)

•

en:myopathy (rare)

•

en:proximal muscle weakness occurs later

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

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

•

en:sparing of anterior tibialis muscle

•

en:small miniature endplate potentials (mepp)

•

en:secondary loss of sarcolemmal caveolin-3

•

en:rounded, atrophic fibers (family a)

•

en:rhabdomyolysis with exercise (in older patients)

•

en:respiratory distress (congenital form)

•

en:reduced muscle bulk

•

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

•

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

•

en:nemaline myopathy (in 1 reported male)

•

en:loose connective tissue

•

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

•

en:proximal limb muscle weakness (occurs later)

•

en:progressive proximal muscle weakness

•

en:progressive muscle weakness

•

en:progressive interictal weakness is common

•

en:poor head control in infancy

•

en:numerous vacuole-like areas

•

en:normal lamp2 staining (309060)

•

en:neonatal hypertonias

•

en:loss of achr

•

en:gait abnormality

•

en:lipoatrophic appearance

•

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

•

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

•

en:cox-depleted fibers

•

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

•

en:cores extend along length of muscle fiber

•

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

•

en:cold sensitivity has been reported

•

en:carpopedal spasm

•

en:calf hypertrophy (reported in 1 family)

•

en:calcific tendinitis

•

en:buffalo hump

•

en:biceps aplasia

•

en:decreased muscle density on imaging

•

en:axial weakness

•

en:axial muscle hyperextension, episodic

•

en:attacks of weakness

•

en:atrophy, neurogenic muscular

•

en:apoptotic nuclei

•

en:angular fibers (in some patients)

•

en:accumulation of abnormal mitochondria

•

en:abnormal mitochondria

•

en:abnormal aggregation of mitochondria

•

en:thenar muscle atrophy

•

en:decreased coenzyme q10

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:lipid droplet accumulation

•

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

•

en:jitter

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:infantile axial hypotonia

•

en:increased numbers of type 1 fibers

•

en:increased fibrosis (in some patients)

•

en:increased endo- and perimysial connective tissue

•

en:hypotrophy of type 1 fibers

•

en:hypotonia, axial, severe

•

en:heterotopic bone formation in subcutaneous fat

•

en:gluteus maximus and thigh adductors most affected

•

en:fatty degeneration of muscle seen on mri

•

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

•

en:exercise intolerance (patient a)

•

en:exercise-induced myalgia

•

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

•

en:enteroviral dermatomyositis syndrome

•

en:emg may show myopathic features

•

en:emg in myotonia permanens shows continuous myotonic activity

•

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

•

en:edema of lower extremity

•

en:distal muscle weakness, occurs initially

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:swelling of the extremities, episodic

•

en:decreased activity of respiratory complex ii+iii

•

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

•

en:muscle biopsy shows variation in fiber size (family a)

•

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

•

en:myofibrillar myopathy

•

en:myalgia

•

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

•

en:muscle weakness, proximal and distal

•

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

•

en:muscle shows lipid accumulation

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle hypertrophy in affected area

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:nerve conduction studies normal

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows dystrophic changes

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle atrophy in the limbs

•

en:muscle atrophy, mild

•

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

•

en:multiple mitochondrial dna deletions

•

en:minicores (in some)

•

en:mild muscular hypotonia

•

en:necrosis

•

en:normal neonatal period may occur before weakness is apparent

•

en:lower limb atrophy

•

en:tetany

•

en:wrist swelling

•

en:tubulofilamentous inclusions

•

en:weakness of neck extensors (rare)

•

en:variation of myofiber diameter

•

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

•

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

•

en:upper limb involvement may occur later

•

en:tubular aggregates seen on muscle biopsy

•

en:tubular aggregates (in some patients)

•

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

•

en:swelling of the hands and feet, episodic

•

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

•

en:superficial rerouting of lymph through the skin

•

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

•

en:some patients become wheelchair-dependent

•

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

•

en:shortening of various muscle-tendon groups in legs

•

en:scapular muscle atrophy

•

en:rimmed vacuoles on biopsy

•

en:proximal muscle weakness in lower limbs

•

en:proximal muscle weakness, limb-girdle distribution

•

en:proximal and distal muscle atrophy in lower limbs

•

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

•

en:myopathy

•

en:loss of ambulation (in some patients)

•

en:abnormal muscle tone

•

en:decreased or absent ankle reflexes

•

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

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

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

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:cranial muscles spared

•

en:complex v deficiency

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:atrophic calf muscles

•

en:adhalin deficiency seen on muscle biopsy

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:disorganized myofilaments seen on muscle biopsy

•

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

•

en:'hanging' big toe

•

en:winged scapula

•

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

•

en:vacuoles in the myofiber cytoplasm

•

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

•

en:unable to walk

•

en:loss of ability to walk in early childhood

•

en:type 1 fiber atrophy seen on muscle biopsy

•

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

•

en:denervation seen on emg

•

en:congophilic deposits

•

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

•

en:hernia

•

en:lipid accumulation in muscle tissue

•

en:increased muscle tone (early in life)

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:dorsal and flexor muscles of the forearm are involved

•

en:increased fatigue

•

en:hypotonia, severe, persistent

•

en:hypotonia, infantile, severe

•

en:hypotonia, generalized, severe

•

en:hyporeflexia of lower limbs

•

en:hypertonicity (uncommon)

•

en:hip girdle muscle atrophy

•

en:increased internal nuclei in skeletal muscle fibers

•

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

•

en:emg may showed myotonic discharges

•

en:giant granules in muscle cells

•

en:dystrophic changes on biopsy

•

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

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:fat pads on the hands and feet

•

en:fiber size variation seen on muscle biopsy

•

en:generalized muscle weakness, severe

•

en:relatively preserved limb strength

•

en:repetitive response to single nerve stimulation

•

en:normal phosphorylase kinase activity in muscle

•

en:rectus medial atrophy

•

en:prominent muscular appearance

•

en:predominance of oxidative fibers

•

en:plantar fibromatosis

•

en:phagocytic vacuoles with degraded membranous material

•

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

•

en:paralysis of the lower limbs (later)

•

en:myogenic changes seen on emg

•

en:nonspecific myopathy seen on biopsy

•

en:nonspecific myopathic changes seen on biopsy

•

en:neuropathic or myopathic changes seen on emg

•

en:nemaline rod formation

•

en:necrotic and regenerating muscle fibers

•

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

•

en:muscular appearance

•

en:muscle weakness (1 patient)

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, severe, proximal and distal

•

en:rhabdomyolysis

•

en:replacement of affected muscle tissue with fatty tissue

•

en:biceps brachii atrophy

•

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

•

en:abnormal distribution of subcutaneous fat

•

en:muscle weakness, lower limbs (patient a)

•

en:broad-based gait

•

en:amyotrophy (1 patient)

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:absence of gamma-sarcoglycan protein

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:abnormal jitter seen on emg

•

en:abnormal irregular myofibrillar network

•

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

•

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

•

en:wasting of calf muscles (rare)

•

en:scattered necrotic fibers

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

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

•

en:upper and/or lower limbs may be affected

•

en:ubiquinone decreased

•

en:tortuous lymphatic tracts

•

en:symptoms may be induced by heat

•

en:small endplate

•

en:small atrophic fibers (in some patients)

•

en:shortening of flexor profundus muscle-tendon unit

•

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

•

en:muscle weakness, particularly of the lower limbs

•

en:amyotrophy, neurogenic

•

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

•

en:decreased lipoic acid

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows fasciculations

•

en:dystrophic features seen on muscle biopsy

•

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

•

en:distal limb muscle weakness occurs later

•

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

•

en:difficulty walking, running

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

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

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:decreased endplate potential and amplitudes

•

en:fatty infiltration seen on muscle biopsy

•

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

•

en:clumsiness

•

en:cellulitis due to immunodeficiency

•

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

•

en:atrophy of type i fibers

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:atrophic fibers

•

en:ankle clonus

•

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

•

en:abnormal sarcoplasmic reticulum elements

•

en:central nuclei

•

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

•

en:finger and wrist extensor weakness

•

en:muscle pain and cramps following exercise

•

en:loss of truncal subcutaneous adipose tissue

•

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

•

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

•

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

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle atrophy, upper and lower limbs

•

en:muscle amyotrophy

•

en:multi-core congenital myopathy

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:lower limb muscle hypotrophy

•

en:interfibrillar and subsarcolemmal vacuoles

•

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

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:inability to stand on tiptoes

•

en:inability to run

•

en:impaired toe-walking

•

en:impaired heel-walking

•

en:hypotonia at birth

•

en:hypotonia (patient b)

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypoplasia of cervical paravertebral muscles

•

en:gowers sign present

•

en:global muscle weakness

•

en:buffalo hump (rare)

•

en:muscular fasciculation

•

en:congenital absence of gluteal muscles

•

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

•

en:painful muscle cramps

•

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

•

en:neurogenic changes seen on emg and biopsy

•

en:neurogenic atrophy

•

en:nemaline rods may be observed

•

en:nemaline rods (in some patients)

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:necrotic and regenerating fibers

•

en:myotonia

•

en:myopathy, mild to severe

•

en:muscle weakness in forearm muscles

•

en:pectoralis major hypoplasia

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness (in some patients)

•

en:muscle weakness, variable

•

en:muscle weakness, severe

•

en:muscle weakness, limb-girdle, mild

•

en:muscle wasting, progressive

•

en:muscle pain and cramping on exertion

•

en:muscle fibers contain internal nuclei

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:poor development of the postsynaptic membrane

•

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

•

en:shoulder weakness

•

en:congophilic inclusions

•

en:z-disks with abnormal homogeneous material

•

en:upper limb weakness

•

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

•

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

•

en:tendon tears

•

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

•

en:subcutaneous lipomatous tissue

•

en:small rounded fibers

•

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

•

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

•

en:poor head control

•

en:relative sparing of the tibialis anterior

•

en:reduced subcutaneous adipose tissue

•

en:reduced ankle dorsiflexion

•

en:recovery between attacks

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:ragged-red fibers on muscle biopsy

•

en:proximal weakness

•

en:proximal amyotrophy

•

en:progression to proximal muscle weakness

•

en:preserved nerve terminals seen on muscle biopsy

•

en:poor muscle mass

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:replacement of myofibers with connective tissue

•

en:muscle atrophy restricted to the upper limb

•

en:degenerating junctional folds

•

en:emg shows myopathic features

•

en:emg shows denervation

•

en:emg consistent with chronic neurogenic disorder

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness and atrophy

•

en:distal muscle weakness, lower legs

•

en:distal limb muscle weakness and atrophy

•

en:difficulty running

•

en:difficulty in toe walking

•

en:diastasis recti

•

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

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:decremental response to repetitive nerve stimulation

•

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

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased postsynaptic achr

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial complex v activity

•

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

•

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

•

en:decreased exercise tolerance

•

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

•

en:muscle atrophy, primarily in the legs

•

en:endomysial fibrosis

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:fasciculations (in some patients)

•

en:loss of gluteal adipose tissue

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:fibrillation

•

en:muscle atrophy, diffuse, severe

•

en:mild endplate myopathy

•

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

•

en:lymphedema of lower limbs (in some patients)

•

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

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:loss of subcutaneous fat, diffuse

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of lower-limb tendon reflexes

•

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

•

en:gowers sign

•

en:inability to jump or squat

•

en:lack of antigravity movements (patient b)

•

en:fibromyalgia

•

en:hematomas, recurrent large subcutaneous

•

en:hypotonia, profound

•

en:impaired mitochondrial respiration

•

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

•

en:increased mitochondria seen on muscle biopsy

•

en:increased muscle lipid content

•

en:increased variability of fiber size seen on muscle biopsy

•

en:muscle biopsy shows neurogenic changes

•

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

•

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

•

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

•

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

•

en:muscle biopsy shows lipid deposition

•

en:muscle atrophy, mild, more proximal than distal

•

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

•

en:mild distal muscle atrophy

•

en:motor delay

•

en:mitochondria are placed at the periphery of muscle fibers

•

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

•

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

•

en:lymphedema, hands (rare)

•

en:lymphangiectasia

•

en:muscle spasticity

•

en:lipomas or lipomatous masses (most cases)

•

en:muscle pain (in some patients)

•

en:smooth muscle may also become involved

•

en:muscle weakness, severe, axial and proximal predominance

•

en:soft tissue or tendinous calcinosis may occur

•

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

•

en:limb-girdle muscle atrophy

•

en:uterine muscle may be stiff during pregnancy

•

en:tendinous and tuberous xanthoma

•

en:symmetrical muscle wasting

•

en:subsarcolemmal mitochondrial accumulation

•

en:spasm

•

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

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:severe muscle hypotonia at birth

•

en:reduced muscle tone but normal power

•

en:proximal muscle weakness, mild

•

en:proximal and distal muscle atrophy

•

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

•

en:progression to wheelchair in fourth decade

•

en:normal dystrophin immunostaining

•

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

•

en:lipid and glycogen accumulation

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:increased lysosomal glycogen

•

en:cellulitis or infection may occur

•

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

•

en:disruption plasma membrane (in some patients)

•

en:difficulty rising from chair

•

en:decreased mitochondria

•

en:decreased atp production

•

en:decreased activity of complex i and complex iv

•

en:decreased activities of complexes i and iv

•

en:calf muscle pseudohypertrophy

•

en:edematous hands and feet (1 patient)

•

en:calf atrophy (later onset)

•

en:atrophy of neck muscles may occur later

•

en:ascites (in some patients)

•

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

•

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

•

en:absence of collagen vi immunostaining

•

en:abnormal subcutaneous fat tissue distribution

•

en:widening of the synaptic cleft

•

en:disuse atrophy

•

en:emg shows myopathy

•

en:increased internal nuclei (in some patients)

•

en:hemihypertrophy of right arm and leg (rare)

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:increased connective tissue and fat in muscles

•

en:increased centralized internal nuclei

•

en:inclusions are dnajb6-immunoreactive

•

en:hypotonia (1 patient)

•

en:hypotonia, neonatal, severe (hcs)

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:generalized weakness (adult-onset)

•

en:enlarged mitochondria

•

en:generalized muscle weakness (less common)

•

en:generalized muscle hypertrophy

•

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

•

en:floppy infant syndrome

•

en:fiber-type grouping pattern

•

en:facial diplegia

•

en:extensor finger muscle weakness

•

en:exercise-induced muscle fatigue

•

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

•

en:calf muscle hypoplasia

•

en:abnormal size and shape of synaptic endplates

•

en:muscle biopsy shows neurogenic atrophy

•

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

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, mild, proximal and distal

•

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

•

en:muscle hypertrophy

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows loss of type 2a fibers

•

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

•

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

•

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

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy (1 patient)

•

en:muscle aches, cramps

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

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

•

en:lymphangitis, episodic

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:myogenic profile on electromyography

•

en:increased lipid droplets and abnormal mitochondria

•

en:sarcoplasmic inclusions

•

en:type 2 muscle fiber atrophy

•

en:absence of pectoralis minor muscle

•

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

•

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

•

en:small nerve terminals

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:shoulder girdle weakness

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:myopathic changes seen muscle biopsy

•

en:quadriceps muscle spared

•

en:prominent musculature

•

en:postexercise cmap amplitude facilitation

•

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

•

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

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:neurogenic changes later in disease seen on emg

•

en:myopathic changes seen on emg of affected muscle

•

en:limb-girdle muscle weakness

•

en:muscle weakness, proximal, slowly progressive

•

en:increased endomysial connective tissue around muscle fibers

•

en:congenital myopathy (in one patient)

•

en:decreased sarcolemmal immunostaining for ptrf

•

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

•

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

•

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

•

en:cytochrome-c oxidase deficiency

•

en:cox-deficient fibers

•

en:cores or minicores

•

en:calf muscle weakness

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:calf hypertrophy (early in the disease)

•

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

•

en:axial muscle weakness

•

en:atrophy of type 1 and type 2 fibers

•

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

•

en:ankle edema (finding)

•

en:increased connective tissue and fat

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

en:aggregates contain granular electron-dense material

•

en:degenerate mitochondrial on em

•

en:forearm muscle weakness

•

en:increased centralized nuclei

•

en:hypotonic

•

en:hypotonia (patient a)

•

en:hypoplasia of supraspinatus muscle

•

en:hypoactive gag reflex

•

en:head drop due to neck muscle weakness

•

en:hamstring muscle affected

•

en:hand and foot weakness

•

en:fatty replacement

•

en:facial paresis

•

en:exertional fatigue

•

en:easy bruisability of lower extremities

•

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

•

en:distal muscle weakness, upper and lower limbs

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:distal lower limb amyotrophy

•

en:myopathic changes seen on biopsy

•

en:muscle cramp

•

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

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness associated with fasting or infection

•

en:muscle weakness, hypokalemia-related

•

en:muscle hypertrophy (meb)

•

en:muscle fiber regeneration

•

en:increased connective tissue (in some patients)

•

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

•

en:mild atrophy of the proximal lower limbs

•

en:low maximum workload on exercise testing

•

en:internal nuclei seen on muscle biopsy

•

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

•

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

•

en:increased subcutaneous truncal adipose tissue

•

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

•

en:hypoglycosylation of alpha-dystroglycan

•

en:myopathy seen on emg

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:necrosis and degeneration seen on muscle biopsy

•

en:proximal muscle weakness, lower limbs, mild

•

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

•

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

•

en:shoulder muscle weakness (in some patients)

•

en:shortening of various muscle-tendon groups in feet

•

en:severe disability within 20 years of onset

•

en:secondary myopathic features

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rupture of tendon

•

en:proximal muscles more often affected

•

en:neurogenic changes

•

en:hand muscle atrophy

•

en:progressive distal muscle weakness

•

en:primary myopathic changes seen on emg

•

en:presynaptic defect at the neuromuscular junction

•

en:positive staining for atpase activity at ph of 4.3

•

en:peripheral edema

•

en:painful adipose tissue

•

en:neurogenic changes seen on emg

•

en:hematoma

•

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

•

en:grip strength decreased

•

en:contractures of upper limbs (in some patients)

•

en:decreased muscle mitochondrial aconitase

•

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

•

en:decreased mitochondrial respiratory activities (in some patients)

•

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

•

en:decreased complex i activity (rare)

•

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

•

en:cytochrome c oxidase-negative fibers

•

en:centrally located nuclei seen on muscle biopsy

•

en:degrading mitochondria

•

en:calf pseudohypertrophy rare

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:biopsy muscle normal

•

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

•

en:attacks precipitated by rest after exercise

•

en:angioedema

•

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

•

en:stiffness (uncommon)

•

en:degenerating mitochondria

•

en:delayed motor development (cvs+)

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:emg shows polyphasic continuous motor unit discharges

•

en:glycogen accumulation seen on biopsy

•

en:generalized muscle weakness

•

en:foot extensor muscle weakness (later onset)

•

en:fibrous dysplasia (rare)

•

en:fiber type variation seen on biopsy

•

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

•

en:fiber size variation

•

en:fat pad anterior to malleolus

•

en:electromyogram abnormal

•

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

•

en:edema at birth

•

en:edema, generalized

•

en:easily fatigued (finding)

•

en:dystrophic changes occur later

•

en:dysphonia

•

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

•

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

•

en:distal lower limb muscle weakness and atrophy

•

en:sparing of the anterior tibial compartment

•

en:vacuolar degeneration

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle weakness (hcs)

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle weakness, congenital

•

en:muscle pain (less common)

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows no dystrophic changes

•

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

•

en:myopathic features seen on biopsy

•

en:muscle atrophy, severe

•

en:mild muscle atrophy in forearm muscles

•

en:merosin-positive biopsy

•

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

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:loss of adipose tissue occurs around puberty

•

en:lipodystrophy (in some patients)

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

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

•

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

•

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

•

en:soft tissue vascular malformations

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:wide variation in fiber size

•

en:weakness of anterior compartment tibial muscles

•

en:walking delay

•

en:virtually no active movement at birth (wws)

•

en:usually no myopathic changes on biopsy

•

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

•

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

•

en:secondary loss of merosin and desmin

•

en:normal or increased abdominal adipose tissue

•

en:rhabdomyolysis (in some patients)

•

en:retroperitoneal fibrosis (rare)

•

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

•

en:ragged-red muscle fibers

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:prolonged endplate potentials

•

en:pelvic girdle muscle atrophy

•

en:normal or increased truncal adipose tissue

•

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

•

en:pharyngeal muscle weakness

•

en:increased falls

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:calf and thigh cramping muscle pains

•

en:biopsy shows dystrophic changes

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:bilateral foot drop

•

en:axial hypotonia (in some patients)

•

en:attacks precipitated by cold temperature

•

en:atrophy of shins

•

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

•

en:casq1-immunopositive inclusions

•

en:weakness of ankle plantar flexion

•

en:waddling gait

•

en:umbilical depression

•

en:type 2 muscle fiber predominance

•

en:tubular aggregates in muscle fibers may occur

•

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

•

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

•

en:thenar amyotrophy (rare)

•

en:calf hypertrophy (uncommon)

•

en:angular atrophic fibers

•

en:centralized myonuclei

•

en:enlarged nuclei with central pallor

•

en:hypotonia from birth to age 12

•

en:contractures of distal lower limbs

•

en:hypotonia (in some patients)

•

en:hypotonia, neonatal (in some patients)

•

en:glycogen deficiency in muscle fibers

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:hypotrophy of the small hand muscles

•

en:fatty deposition

•

en:fiber type variation

•

en:emg shows neurogenic changes consistent with denervation

•

en:emg shows myopathic and neurogenic changes

•

en:edema, subcutaneous, generalized

•

en:distal muscle atrophy, predominantly lower limbs

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:decrement of the compound muscle action potential on repetitive stimulation

•

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

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle mass

•

en:easy fatigability with exercise

•

en:facial edema

•

en:evidence of lymphatic rerouting

•

en:emg shows myotonic changes

•

en:distal limb muscle weakness, lower more than upper

•

en:dystrophic skeletal muscle seen on biopsy

•

en:distal muscle weakness

•

en:disruption of sarcomeres with disorganization of the z band

•

en:distal amyotrophy

•

en:difficulty walking and climbing stairs (patient a)

•

en:fat accumulation in the suprabuttock area

•

en:lipid droplets seen on muscle biopsy

•

en:hypertonia in infancy

•

en:hypotonia, truncal and appendicular

•

en:inability to sit or hold head up

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased variation in fiber size seen on muscle biopsy

•

en:internal nuclei

•

en:limb-girdle muscle weakness (2 families)

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

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

•

en:lipodystrophy

•

en:deposits immunoreactive to beta-amyloid protein

•

en:localized cellulitis

•

en:difficulty running or inability to run

•

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

•

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

•

en:weakness of all intrinsic hand muscles (later)

•

en:lymphedema, dorsa of feet

•

en:pseudohypertrophy of muscle

•

en:quadriceps weakness

•

en:rare necrotic fibers

•

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

•

en:rimmed vacuoles with basophilic granular material

•

en:short and thickened z-discs

•

en:small round skeletal muscle fibers

•

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

•

en:thin musculature

•

en:walking may be limited

•

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

•

en:decreased muscle mass (in some patients)

•

en:abnormal axons with sprouting and swelling

•

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

•

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

•

en:autophagic rimmed vacuoles

•

en:calf hypertrophy (less common)

•

en:calf muscle enlargement

•

en:coenzyme q10 deficiency

•

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

•

en:cytoplasmic inclusion bodies (finding)

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased mitochondrial respiratory chain complex activity

•

en:loss of subcutaneous adipose tissue in limbs

•

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

•

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

•

en:rupture of muscle

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:polyglucosan accumulation

•

en:potassium sensitivity has been reported

•

en:predominantly lower limb lymphedema

•

en:proximal muscle weakness

•

en:pyruvate oxidation defect

•

en:quadriceps atrophy

•

en:redundancy of basal lamina with accumulated debris

•

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

•

en:rhabdomyolysis, episodic

•

en:skeletal muscle damage

•

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

•

en:skeletal muscle weakness

•

en:stiffness

•

en:tibialis anterior muscle affected

•

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

•

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

•

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

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:variable fiber size

•

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

•

en:weakness worsened by activity

•

en:hypotonia

•

en:pelvic muscle involvement occurs later

•

en:normal or increased facial adipose tissue

•

en:many fibers with internal nuclei

•

en:muscle biopsy shows nemaline rods

•

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

•

en:mild decrease in mitochondrial respiratory chain activity

•

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

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mri shows fatty replacement

•

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

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:muscle biopsy may show inflammatory changes

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows myopathic or dystrophic changes

•

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

•

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

•

en:muscle cramps during exercise

•

en:muscle fatigability

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle pain following exercise (in some patients)

•

en:muscle weakness, predominantly proximal

•

en:myofibromatosis

•

en:myopathic and neurogenic changes seen on emg

•

en:myopathic pattern seen on emg

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

en:neck flexor weakness

•

en:neonatal edema (in some patients)

•

en:proximal upper limb amyotrophy

◀

Génériques

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en:muscle

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7120134 • caches: c1=50 c2=1418 c3=139

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