Le Diko - en:isolated mitochondrial complex iv deficiency seen on biopsy

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Le Diko - en:isolated mitochondrial complex iv deficiency seen on biopsy

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en:isolated mitochondrial complex iv deficiency seen on biopsy

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:polymyositis

•

•

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faiblesse de muscle

•

en:proximal muscle weakness

•

en:percussion myotonias

•

en:mitochondrial myopathy

•

en:decreased exercise tolerance

•

en:cytochrome-c oxidase deficiency

•

en:areflexia of lower limbs

•

en:fasciculation

•

en:fibrillation

•

•

en:predominantly lower limb lymphedema

•

en:exercise-induced myalgia

•

en:neonatal hypotonia

•

oedème de la face

•

en:myofibrillar myopathy

•

en:distal lower limb muscle weakness

•

biopsie

•

•

en:necrotic process

•

en:hyporeflexia of lower limbs

•

•

•

en:muscle hypertrophy

•

•

•

en:lymphangiectasia

•

oedème du visage

•

•

en:muscular rigidity

•

en:berardinelli-seip congenital lipodystrophy

•

en:carpopedal spasm

•

en:hypoplasia of muscle

•

en:fibromyalgia

•

en:congenital fiber-type disproportion

•

•

•

•

en:difficulty standing

•

en:muscle fatigue

•

en:myopathy with abnormal lipid metabolism

•

en:muscle weakness

•

en:pelvic girdle weakness

•

•

•

en:proximal myopathy

•

en:rhabdomyolysis

•

en:increased numbers of type 1 fibers

•

en:absence of some scapular muscles (less common)

•

en:glycogen accumulation seen on biopsy

•

en:distal muscle atrophy (1 patient)

•

en:decreased muscle succinate dehydrogenase

•

en:hypotonia, neonatal and later

•

en:global muscle weakness

•

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

•

en:hyaline inclusion

•

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

•

en:atrophic muscle fiber on biopsy

•

en:rimmed vacuoles on biopsy

•

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

•

en:lack of integrin alpha-7 staining

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:cytochrome c oxidase-negative fibers

•

en:increased fat and fibrous tissue

•

en:decreased ability to run

•

en:myalgia (in some patients)

•

en:distal muscle wasting, mild

•

en:decreased cytochrome c oxidase staining

•

en:congenital, nonprogressive myopathy

•

en:atrophic fibers

•

en:abnormal sarcoplasmic reticulum elements

•

en:weakness of neck extensors (rare)

•

en:axial weakness

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:dystrophic changes on biopsy

•

en:anterior tibial muscles first involved

•

en:variability in fiber size

•

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

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal iron deposition in mitochondria

•

en:fiber size variation

•

en:muscle weakness, severe, axial and proximal predominance

•

en:handgrip myotonia

•

en:hypotonia (untreated hypothyroidism)

•

en:distal muscle atrophy due to neuropathy

•

en:distal lower limb muscle weakness and atrophy

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:toe and foot dorsiflexor weakness

•

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

•

en:absence of necrosis

•

en:distal muscular atrophy due to peripheral neuropathy

•

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

•

en:centralized nuclei may be seen

•

en:imaging shows muscle atrophy and fatty replacement

•

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

•

en:attacks last 4 to 24 hours

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:atrophy of the intrinsic foot and hand muscles

•

en:edema is present at birth and then slowly decreases

•

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

•

en:disorganization of the myofibrillar pattern

•

en:congophilic staining

•

en:decreased hand grip strength

•

en:type 1 muscle fiber predominance

•

en:calf hypertrophy (uncommon)

•

en:muscle shows lipid accumulation

•

en:attacks usually decrease or disappear after age 40 years

•

en:congophilic eosinophilic inclusions

•

en:redundancy of basal lamina with accumulated debris

•

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

•

en:calf muscle hypoplasia

•

en:edema, subcutaneous, generalized

•

en:fiber type grouping

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:calf and thigh cramping muscle pains

•

en:swelling of the hands and feet, episodic

•

en:distal lower limb anterior compartment weakness

•

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

•

en:thick palmar fascia

•

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

•

en:type 2 fiber hypertrophy

•

en:increased connective tissue

•

en:central nuclei

•

en:difficulty walking up stairs

•

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

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:abnormal mitochondria

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:decreased muscle mass, especially distally

•

en:upper limb weakness

•

en:poor head control in infancy

•

en:normal or increased adipose tissue around the neck

•

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

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:bilateral foot drop

•

en:aggregates contain granular electron-dense material

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:distal atrophy of the legs

•

en:electromyography shows myotonic discharges

•

en:distal muscle weakness may occur

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:proximal and distal muscle atrophy in lower limbs

•

en:gluteus maximus and thigh adductors most affected

•

en:swelling of the affected areas

•

en:z-disk streaming

•

en:hypotonia, generalized (in some patients)

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

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

•

en:increased internal nuclei in skeletal muscle fibers

•

en:tendon tears

•

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

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:gait abnormalities (occurs later)

•

en:tenderness of lower extremities

•

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

•

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

•

en:hypertonicity of the lower limbs

•

en:distal limb muscle weakness (less common)

•

en:calf muscle enlargement

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

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

•

en:increased endomysial fibrosis

•

en:autophagosome

•

en:muscles have a woody consistency on palpation

•

en:lower limb muscle hypotrophy

•

en:muscular dystrophy (in some patients)

•

en:muscle weakness is not a feature

•

en:muscle weakness, lower limbs, during exercise

•

en:myopathy, mild to severe

•

en:endomysial fibrosis

•

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

•

en:disorganized myofilaments seen on muscle biopsy

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:edema reoccurs with infections

•

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

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:muscle pain after exercise

•

en:muscle paralysis, episodic

•

en:myopathy (in some patients)

•

en:nonspecific muscle fiber atrophy

•

en:loss of ambulation (in some patients)

•

en:vacuolar degeneration

•

en:deposits immunoreactive to beta-amyloid protein

•

en:generalized muscle weakness, proximal and distal

•

en:sarcoplasmic inclusions

•

en:increased variability in muscle fiber diameter

•

en:generalized muscle wasting

•

en:muscle atrophy, diffuse, severe

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:increased glycogen in muscle

•

en:cytoplasmic inclusion bodies (finding)

•

en:respiratory distress (congenital form)

•

en:biceps brachii atrophy

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle fiber splitting

•

en:increased subcutaneous truncal adipose tissue

•

en:normal phosphorylase kinase activity in muscle

•

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

•

en:muscle stiffness (in older patients)

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:mild variability in muscle fiber size

•

en:onset of lymphedema around puberty

•

en:exertional leg pain

•

en:increased mitochondria with abnormal cristae

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:pectoralis major hypoplasia

•

en:muscle weakness and atrophy may be asymmetric

•

en:difficulty running or inability to run

•

en:muscle strength and bulk is preserved

•

en:lipid droplets seen on muscle biopsy

•

en:peroneal muscle weakness

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:neurogenic atrophy seen on muscle biopsy

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle biopsy shows type 2 fiber atrophy

•

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

•

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

•

en:increased intramuscular fat

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:minicores (in some)

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:generalized limb muscle atrophy

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:exercise intolerance (less common)

•

en:abnormal axons with sprouting and swelling

•

en:exercise-induced weakness

•

en:lymphedema of lower limbs (in some patients)

•

en:granular deposits in the sarcomeres

•

en:loss of sarcomeric striations

•

en:motor clumsiness

•

en:distal muscle weakness, predominantly lower limbs

•

en:affected muscles show atrophy

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:low maximum workload on exercise testing

•

en:easy fatigue

•

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

•

en:hypoplasia of serratus anterior muscle

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:numerous vacuole-like areas

•

en:generalized muscle contractions, episodic

•

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

•

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

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:atrophy of type 1 and type 2 fibers

•

en:muscle biopsy shows myofibrillar changes

•

en:pelvic muscle involvement occurs later

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:muscle atrophy affecting the upper back and neck muscles

•

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

•

en:muscle biopsy shows type 1 fiber predominance

•

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

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle hyperirritability

•

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

•

en:inability to stand on tiptoes

•

en:hypoplasia of the hand muscles (29%)

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:hamstring and quadriceps muscles mildly affected

•

en:decreased thiamine pyrophosphate

•

en:muscle hypertrophy in affected area

•

en:distal limb muscle weakness occurs later

•

en:hypoplasia of latissimus dorsi muscle

•

en:decreased muscle mass (especially of limbs)

•

en:fatty infiltration seen on muscle biopsy

•

en:muscle biopsy shows glycogen storage

•

en:degrading mitochondria

•

en:muscle amyotrophy

•

en:lipid accumulation in muscle tissue

•

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

•

en:non-pitting edema

•

en:wide variation in fiber size

•

en:reduced muscle bulk

•

en:loss of subcutaneous adipose tissue in limbs

•

en:muscle fatigability

•

en:muscle fiber atrophy, profound (rare)

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:distal muscle weakness occurs later

•

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

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:no muscle fiber necrosis

•

en:multi-core congenital myopathy

•

en:lymphedema of the extremities

•

en:glycogen deficiency in muscle fibers

•

en:painful swelling in aponeuroses

•

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

•

en:muscle weakness, severe, proximal and distal

•

en:myopathic features seen on biopsy

•

en:hypotrophy of type 1 fibers

•

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

•

en:fat accumulation in the suprabuttock area

•

en:normal or increased truncal adipose tissue

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:patchy muscle fiber degeneration

•

en:minipolymyoclonus

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:muscle biopsy shows lipid droplets

•

en:nemaline bodies occur in type 1 fibers

•

en:myopathic changes seen muscle biopsy

•

en:mild weakness

•

en:sarcomere disappearance seen on muscle biopsy

•

en:muscle weakness and atrophy

•

en:rhabdomyolysis (in some patients)

•

en:thickened subcutaneous tissue

•

en:muscle weakness, mainly proximal and axial

•

en:nemaline rod formation

•

en:limb-girdle myopathy

•

en:increased muscle tone at birth

•

en:peroneal muscle atrophy

•

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

•

en:muscle weakness may affect upper limbs

•

en:ragged-red muscle fibers

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:secondary loss of sarcolemmal caveolin-3

•

en:muscle biopsy shows dystrophic pattern

•

en:myopathy, mild

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:dystrophic features

•

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

•

•

en:hip flexor weakness

•

en:deep finger muscle weakness

•

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

•

en:axial hypotonia (in some patients)

•

en:quadriceps atrophy (later onset)

•

en:lipomas or lipomatous masses (most cases)

•

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

•

en:muscle wasting (especially legs and arms)

•

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

•

en:flaccid weakness or paralysis, episodic attacks

•

en:muscle weakness, congenital

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:hypoglycosylation of alpha-dystroglycan

•

en:myofibrillar disintegration

•

en:muscle pain with exercise (in older patients)

•

en:proximal muscle weakness (85% of patients)

•

en:muscle weakness and atrophy, progressive

•

en:muscle fibers appear as fetal myotubules

•

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

•

en:primarily affects lower limbs

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

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

•

en:poor muscle bulk

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:prominent veins, lower limbs

•

en:poor exercise tolerance

•

en:inability to sit or hold head up

•

en:muscle cramps, painful, recurrent

•

en:muscle weakness, hypokalemia-related

•

en:fiber size variation seen on muscle biopsy

•

en:pain or cramping during sustained manual activity

•

en:muscle atrophy (variable)

•

en:calf pseudohypertrophy rare

•

en:muscle weakness, upper and lower limbs

•

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

•

en:onset of weakness in hands and feet

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:increased central nucleation

•

en:muscle atrophy later in the disease

•

en:muscle atrophy (in some patients)

•

en:nemaline bodies are rarely intranuclear

•

en:muscle weakness, proximal, slowly progressive

•

en:normal or increased facial and neck adipose tissue

•

en:muscle wasting in lower limbs

•

en:myxedematous appearance

•

en:muscle biopsy shows myofibrillar disruption

•

en:difficulty rising from chair

•

en:muscle fibers contain internal nuclei

•

en:muscle biopsy shows variation in fiber size

•

en:fiber-type grouping pattern

•

en:giant granules in muscle cells

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:hypotonia (2 patients)

•

en:quadriceps aplasia

•

en:protein aggregates immunopositive for actin and desmin

•

en:enlarged mitochondria

•

en:no myofibrillar abnormalities or protein aggregation

•

en:loss of truncal subcutaneous adipose tissue

•

en:myopathy (rare)

•

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

•

en:red-ragged fibers (2p21del)

•

en:muscle weakness following prolonged exercise

•

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

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:progression to wheelchair in fourth decade

•

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

•

en:progressive distal muscle weakness

•

en:decreased density of calcium release units

•

en:potassium sensitivity has been reported

•

en:nemaline rods (rare)

•

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

•

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

•

en:severe disability within 20 years of onset

•

en:proximal muscle weakness, limb-girdle distribution

•

en:skeletal muscle shows dystrophic changes

•

en:normal dystrophin immunostaining

•

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

•

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

•

en:normal or decreased facial and neck adipose tissue

•

en:pelvic girdle muscle atrophy

•

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

•

en:shoulder girdle muscle atrophy

•

en:merosin-positive biopsy

•

en:proximal limb muscle weakness initially

•

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

•

en:limb weakness and atrophy

•

en:calf muscle hypertrophy

•

en:superior rectus atrophy

•

en:myotonia is present in majority of cases

•

en:gastrocnemius and soleus muscles most affected

•

en:poor musculature

•

en:rigidity (uncommon)

•

en:proximal muscles may be mildly affected

•

en:muscle weakness in forearm muscles

•

en:subcutaneous edema

•

en:muscle atrophy, severe

•

en:increased endomysial connective tissue around muscle fibers

•

en:prominent muscular appearance

•

en:hyaline plaques with absent oxidative activity

•

en:some patients never achieve ambulation

•

en:scapuloperoneal muscular atrophy due to denervation

•

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

•

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

•

en:cores contain densely packed myofilaments

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:atrophy, mild (in some cases)

•

en:abdominal wall muscle weakness (later onset)

•

en:axial muscle hyperextension, episodic

•

en:neck flexor weakness

•

en:decreased muscle density on imaging

•

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

•

en:tubular aggregates (in some patients)

•

en:contractures of distal lower limbs

•

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

•

en:weakness of anterior compartment tibial muscles

•

en:acute rhabdomyolysis

•

en:tubular aggregates seen on muscle biopsy

•

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

•

en:tremor of the upper limb

•

en:inability to jump or squat

•

en:muscle weakness, proximal and distal

•

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

•

en:biopsy shows myopathy without vacuoles

•

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

•

en:wrist swelling

•

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

•

en:proximal weakness

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:apoptotic nuclei

•

en:replacement of affected muscle tissue with fatty tissue

•

en:sparing of the anterior tibial compartment

•

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

•

en:thenar eminence hypoplasia

•

en:spheroid bodies are composed of fine filamentous (myofibrillar) material

•

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

•

en:subsarcolemmal mitochondrial aggregates

•

en:muscle pain (less common)

•

en:prominent involvement of the biceps brachii muscles

•

en:myositis (in some patients)

•

en:proximal muscle atrophy (in some patients)

•

en:increased fiber size variability

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:severe form shows absence of spontaneous activity at birth

•

en:progressive proximal muscle weakness

•

en:retroperitoneal fibrosis (rare)

•

en:nonspecific myopathic changes

•

en:recovery between attacks

•

en:muscle stiffness or aching

•

en:ragged-red fibers on muscle biopsy

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:muscle weakness associated with fasting or infection

•

en:progressive interictal weakness is common

•

en:ragged red fibers seen on biopsy

•

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

•

en:predominance of oxidative fibers

•

en:symptoms may be induced by heat

•

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

•

en:some patients become wheelchair-dependent

•

en:levator palpebrae superioris atrophy

•

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

•

en:rhabdomyolysis may occur

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle weakness restricted to the upper limb

•

en:premature exertional muscle weakness

•

en:rectus fascia separation

•

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

•

en:upper limb muscle hypoplasia

•

en:secondary hypertrophy

•

en:walking may be limited

•

en:muscle atrophy, progressive

•

en:muscle cramps during exercise

•

en:relative sparing of the rectus femoris

•

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

•

en:rhabdomyolysis, episodic

•

en:triceps weakness

•

en:variable fiber size

•

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

•

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

•

en:secondary myopathic features

•

en:sparing of anterior tibialis muscle

•

en:increased variation in muscle fiber diameter

•

en:shoulder weakness and atrophy

•

en:z-disks with abnormal homogeneous material

•

en:soft tissue or tendinous calcinosis may occur

•

en:type 2 muscle fiber atrophy

•

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

•

en:proximal muscle weakness (occasional)

•

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

•

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

•

en:lower and upper limbs affected

•

en:mitochondrial vacuolization seen on muscle biopsy

•

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

•

en:increased lipid

•

en:abnormal fat distribution

•

en:loss of antigravity strength

•

en:limb-girdle muscle atrophy

•

en:z-line streaming see on electron microscopy

•

en:proximal and distal muscle atrophy

•

en:centralized myonuclei

•

en:stiffness (uncommon)

•

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

•

en:muscle biopsy shows nemaline rods

•

en:angulated fibers

•

en:foot extensor muscle weakness (later onset)

•

en:muscle biopsy shows small rounded fibers

•

en:mild decrease in mitochondrial respiratory chain activity

•

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

•

en:generalized amyoplasia

•

en:some subcutaneous adipose tissue may remain on upper arms

•

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

•

en:distal limb atrophy (upper and lower)

•

en:myopathic findings on biopsy have been occasionally reported

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:tubulofilamentous inclusions

•

en:muscle atrophy restricted to the upper limb

•

en:myopathy in approximately 45% of patients

•

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

•

en:reduced lower limb subcutaneous fat

•

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

•

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

•

en:neuropathic process seen on muscle biopsy

•

en:slowly progressive limb-girdle myopathy

•

en:proximal limb muscle weakness (occurs later)

•

en:necrosis and degeneration seen on muscle biopsy

•

en:z-disk degeneration

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:muscle fibers may contain abnormal polysaccharide

•

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

•

en:soft fleshy palms (50%)

•

en:tortuous lymphatic tracts

•

en:muscle biopsy shows dystrophic changes

•

en:rare necrotic fibers

•

en:muscle cramps may affect jaw muscles

•

en:tetanus-like muscle contractions

•

en:increased variation in fiber size seen on muscle biopsy

•

en:hip abductor weakness and atrophy

•

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

•

en:atrophy of neck muscles may occur later

•

en:weakness of all intrinsic hand muscles (later)

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:decreased muscle action potential after warming affected muscle

•

en:smooth muscle may also become involved

•

en:subcutaneous fat markedly reduced

•

en:generalized neonatal hypotonia

•

en:eosinophilic inclusions

•

en:poor muscle build

•

en:subsarcolemmal mitochondrial accumulation

•

en:muscle atrophy in the limbs

•

en:weakness of neck muscles may occur later

•

en:tendinous and tuberous xanthoma

•

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

•

en:low muscle mass

•

en:type 1 fiber predominance

•

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

•

en:absence of laminin alpha-2 chain in muscle

•

en:type 2 fiber atrophy see on biopsy

•

en:calf hypertrophy (less common)

•

en:abnormal distribution of subcutaneous fat

•

en:shoulder weakness

•

en:myotonia is usually not seen

•

en:weakness of ankle plantar flexion

•

en:increased muscle tone (early in life)

•

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

•

en:normal or increased abdominal adipose tissue

•

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

•

en:rectus medial atrophy

•

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

•

en:muscle weakness and atrophy, distal

•

en:distal muscle atrophy due to denervation

•

en:abnormal mitochondrial proliferation

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:myotonic discharges

•

en:variation of fiber size and shape

•

en:decreased caveolae in muscle tissue

•

en:rimmed vacuoles with basophilic granular material

•

en:progression to proximal muscle weakness

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:presynaptic defect at the neuromuscular junction

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:normal mitochondrial morphology (1 patient)

•

en:cranial muscles spared

•

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

•

en:poor muscle mass

•

en:calf hypertrophy (early in the disease)

•

en:triceps aplasia

•

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

•

en:muscle weakness is predominantly of extremities and tongue

•

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

•

en:lymphedema, hands (rare)

•

en:muscle weakness, distal (in some patients)

•

en:exercise intolerance (also seen in some heterozygotes)

•

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

•

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

•

en:firm muscles

•

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

•

en:loss of gluteal adipose tissue

•

en:interosseus muscles involved

•

en:weakness and wasting of the lower limbs

•

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

•

en:tubular aggregates seen on biopsy

•

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

•

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

•

en:increased centralized nuclei

•

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

•

en:muscle weakness and atrophy, proximal

•

en:vacuolar myopathy may occur

•

en:progressive proximal muscle involvement

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:hypoplasia of cervical paravertebral muscles

•

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

•

en:exercise-induced muscle stiffness

•

en:gait, drop foot

•

•

ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose

•

en:general paralysis

•

en:paralytic dementia

•

•

•

en:facial edema

•

•

en:syphilitic meningoencephalitis

•

fatigue musculaire

•

•

remaniement nécrotique

•

•

en:Umbilical hernia

•

en:wide-based gait

•

lymphangiectasie

•

en:muscular weakness

•

•

en:general paresis

•

•

•

élargissement du polygone de sustentation

•

empâtement de la nuque et du cou

•

•

•

myopathie myofibrillaire

•

myalgie

•

•

•

en:megaloglossia

•

en:lymphangiectasis

•

en:muscular hypotonia

•

•

dégénérescence vacuolaire

•

dégénérescence cavitaire

•

en:water thesaurismosis

•

en:supraclavicular fat pads

•

en:hematomphalus

•

•

incapable de marcher

•

spasme carpo-pédal

•

Hypotonie musculaire

•

hypotonie, obésité et incisives proéminentes

•

en:distal upper limb amyotrophy

•

en:distal upper limb muscle weakness

•

en:almost complete absence of large diameter fibers

•

hypothyroïdie (manifestations neuromusculaires dans l')

•

•

en:adrenal cytomegaly

•

en:gigantism and hyperplastic visceromegaly

•

•

en:macroglossia

•

en:ombilical hernia

•

hypertrophie staturale avec macroglossie et omphalocèle

•

hypotonie musculaire

•

spasme carpopédal

•

exomphale congénitale

•

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

•

en:muscle biopsy shows myofibrillar myopathy

•

en:ubiquinone decreased

•

en:gait disturbance

•

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:degenerating nerve terminals

•

en:no ragged-red fibers

•

en:mallory-like bodies

•

en:patients achieve independent ambulation, but may lose it

•

hypoplasie glutéale

•

en:muscle biopsy shows ragged red fibers

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

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

•

en:necrotic fibers

•

secousse musculaire

•

en:independent walking may not be achieved

•

en:myotonia is most pronounced in the extremities

•

en:muscle weakness (in some patients)

•

en:proximal muscle weakness in upper limbs

•

en:tubular aggregates mainly in type 1 fibers

•

en:muscle biopsy shows lipid deposition

•

en:muscle mitochondria normal by histochemical analysis

•

en:large lipid droplets

•

en:secondary loss of merosin and desmin

•

en:thenar amyotrophy (rare)

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:muscle biopsy shows mild dystrophic changes

•

en:ankle reflex absent

•

en:muscular fasciculation

•

hernies ombilicales

•

en:reduced postsynaptic cleft area

•

hernie ombilicale congénitale

•

•

•

hernie ombilicale

•

•

en:hyporeflexia

•

en:hypoactive gag reflex

•

en:toe-walking gait

•

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

•

en:generalized lack of subcutaneous fat

•

en:plantar fibromatosis

•

•

en:mild endplate myopathy

•

•

fasciculation musculaire

•

atrophie musculaire neurogène

•

atrophie musculaire neurogénique

•

hypotonie du nouveau-né

•

jitter

•

Oedème

•

en:umbilical hernia

•

•

en:decremental compound muscle action potential on repetitive stimulation

•

fasciculation d'un muscle squelettique

•

contraction clonique

•

en:muscle twitch

•

en:z-band streaming

•

en:buffalo hump

•

en:proximal muscle weakness (120270.0002)

•

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

•

en:fat pads on the hands and feet

•

en:phagocytic vacuoles with degraded membranous material

•

en:muscle biopsy shows abnormal mitochondria

•

en:usually a unilateral disorder

•

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

•

en:quadriceps atrophy

•

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

•

en:proximal lower limb amyotrophy

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

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

•

en:muscle weakness, severe

•

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

•

en:signs of denervation seen on biopsy

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:limb weakness, proximal followed by distal

•

en:increased endo- and perimysial connective tissue

•

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

•

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

•

en:ragged-red fibers seen on muscle biopsy

•

en:muscle fiber necrosis

•

en:reduced muscle mass

•

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

•

en:small rounded fibers

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:difficulty rising from a squatting position

•

en:normal neonatal period may occur before weakness is apparent

•

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

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:edema (hands and feet)

•

en:variation of myofiber diameter

•

en:small or absent axon terminals

•

en:proximal muscle weakness, mild

•

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

•

en:wasted lower leg muscles

•

en:loss of lower-limb tendon reflexes

•

en:attacks precipitated by rest after exercise

•

en:increased connective tissue (in some patients)

•

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

•

en:skeletal muscle damage

•

en:dystrophic changes

•

en:accumulation of abnormal mitochondria

•

en:hypothenar muscle atrophy

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:prominent involvement of the quadriceps femoris muscles

•

en:distal muscle atrophy, affecting the lower limbs

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:mild atrophy of the proximal lower limbs

•

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

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:edematous hands and feet (1 patient)

•

en:painful swelling in fasciae

•

en:distal muscle weakness, occurs initially

•

en:fasciculations (less common)

•

en:loss of ability to walk in early childhood

•

en:gowers sign (in some patients)

•

en:rhabdomyolysis with exercise (in older patients)

•

en:filamentous inclusions in muscle fibers

•

en:proximal upper limb amyotrophy

•

en:progressive loss of facial adipose tissue

•

en:lower limbs more often affected

•

en:glycogen depletion in skeletal muscle

•

en:absence of gamma-sarcoglycan protein

•

en:paralysis of the lower limbs (later)

•

en:necrotic and regenerating muscle fibers

•

en:relative muscle weakness, especially in pelvic girdle

•

en:nuclear clumps

•

en:dorsal and flexor muscles of the forearm are involved

•

en:slim, muscular build (in some patients)

•

en:rhabdomyolysis, episodic and recurrent

•

en:myopathic changes seen on biopsy

•

en:muscle weakness after cooling or on warming affected muscle

•

en:nonspecific myopathy

•

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

•

en:muscle biopsy shows atrophic fibers

•

en:pyruvate oxidation defect

•

en:hypotonia, truncal and appendicular

•

en:myalgia with febrile episodes (rare)

•

en:severe muscle hypotonia at birth

•

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

•

en:myalgia, episodic

•

en:difficulty in toe walking

•

en:hip girdle muscle atrophy

•

en:myofibrillar disorganization

•

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

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:poor sarcomeric structure (in some patients)

•

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

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:arm/shoulder muscle hypoplasia

•

en:myopathic changes on pathology

•

en:quadriceps muscle spared

•

en:muscle pain and cramps following exercise

•

en:secondary myopathic changes

•

en:hypotonia (45%)

•

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

•

en:myogenic profile on electromyography

•

en:muscle weakness, episodic

•

en:lipodystrophy (in some patients)

•

en:enlarged nuclei with central pallor

•

en:reduced ankle dorsiflexion

•

en:proximal muscle weakness, lower limbs, mild

•

en:replacement of myofibers with connective tissue

•

en:muscle atrophy, primarily in the legs

•

en:areflexia due to muscle weakness

•

en:nonspecific myopathic changes seen on biopsy

•

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

•

en:prominent musculature

•

en:no staining for oxidative enzymes

•

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

•

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

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:muscle weakness, limb-girdle, mild

•

en:myoclonic spasms

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:inflammatory cells absent

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:myosin storage myopathy (in some patients)

•

en:shortening of various muscle-tendon groups in feet

•

en:no lipodystrophy in face and neck

•

en:pelvic girdle weakness and atrophy

•

en:structurally abnormal mitochondria

•

en:proximal muscles more often affected

•

en:rectus abdominis muscle separation

•

en:lymphedema of the hands (in some patients)

•

en:tubular aggregates in muscle fibers may occur

•

en:type 1 fiber atrophy

•

en:muscle biopsy shows fiber type disproportion

•

en:limb lymphedema (in some patients)

•

en:hang weakness

•

en:thickening of fascia of forearm

•

en:muscle biopsy shows atrophy

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle weakness (1 patient)

•

en:muscle weakness, mild, proximal and distal

•

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

•

en:scapuloperoneal amyotrophy

•

en:mild weakness of the small hand muscles

•

en:uterine muscle may be stiff during pregnancy

•

en:shoulder muscle hypoplasia

•

en:skeletal muscle weakness

•

en:transient neonatal hypotonia (less common)

•

en:angulated atrophic fibers

•

en:ascending muscle weakness (beginning with feet and legs)

•

en:lipoatrophic appearance

•

•

en:usually no myopathic changes on biopsy

•

en:pectoralis hypoplasia

•

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

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:symmetrical muscle wasting

•

en:muscle biopsy shows neurogenic atrophy

•

en:increased fatty and connective tissue in skeletal muscle

•

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

•

en:fiber-type variability

•

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

•

en:muscle wasting due to chronic denervation

•

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

•

en:sparing of small hand and finger muscles

•

en:increased perisarcolemmal calcium deposition

•

en:velopharyngeal muscle weakness

•

en:muscle cramps (also seen in some heterozygotes)

•

en:progressive distal and proximal symmetric limb weakness

•

en:mildly decreased cytochrome c oxidase activity

•

en:marked variability of fiber size

•

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

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:no muscle weakness

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:muscle atrophy, mild

•

en:muscular appearance

•

en:amyotrophy, neurogenic

•

en:shortening of flexor profundus muscle-tendon unit

•

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

•

en:proximal muscle weakness, less severe

•

en:small endplate

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:vacuolar myopathy

•

en:no facial muscle involvement

•

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

•

en:muscle aches, intermittent

•

en:neck and proximal limb muscle myopathy

•

en:nemaline myopathy (in 1 reported male)

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:distal limb muscle atrophy (less common)

•

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

•

en:congophilic amyloid material

•

en:proximal muscle weakness (in some patients)

•

en:positive staining for slow myosin heavy chain

•

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

•

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

•

en:head drop due to neck muscle weakness

•

en:rimmed vacuoles

•

en:inclusion body myopathy

•

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

•

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

•

en:scapular muscle atrophy

•

en:swelling of the extremities, episodic

•

en:vacuoles are autophagocytic

•

en:ragged red fibers (in some patients)

•

en:soft tissue vascular malformations

•

en:increased muscle glycogen content

•

en:mild muscle atrophy in forearm muscles

•

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

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:minicores or core-like regions may be present

•

en:type 2 muscle fiber predominance

•

en:lymphedema (lower limb)

•

en:painful muscle cramps

•

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

•

en:relative sparing of the tibialis anterior

•

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

•

en:dystrophic changes may be present

•

en:nemaline bodies

•

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

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:paracrystalline inclusions

•

en:upper and/or lower limbs may be affected

•

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

•

en:minimal subcutaneous fat

•

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

•

en:proximal muscle weakness occurs later

•

en:muscle atrophy (1 patient)

•

en:mitochondrial paracrystalline inclusion bodies

•

en:muscle weakness, proximal greater than distal

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:upper limb involvement occurs later or not at all

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:impaired mitochondrial respiration

•

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

•

en:muscle weakness, severe, diffuse

•

en:increased adipose fibrosis

•

en:type 2 fiber predominance

•

en:neurogenic changes

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118366 • caches: c1=8 c2=1002 c3=1

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