Diko : en:muscle biopsy shows mild dystrophic changes

en:muscle biopsy shows mild dystrophic changes

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Langue:anglais

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umls:C1834654

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1000

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

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en:myositis (in some patients)

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

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en:abnormal sarcoplasmic reticulum elements

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en:distal muscle atrophy due to neurologic disease

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

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en:increased internal nuclei seen on muscle biopsy

•

en:increased mitochondria with abnormal cristae

•

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

•

en:increased variation in muscle fiber diameter

•

en:thigh hypertrophy

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en:abdominal muscle hypoplasia

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en:absence of pectoralis minor muscle

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en:distal muscle weakness

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en:loss of lower-limb tendon reflexes

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en:mitochondrial myopathies

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en:muscle pain after exercise

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en:muscular hypotonia of the trunk

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en:facial edema

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

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en:hematoma

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en:marked variability of fiber size

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en:muscle weakness trunk

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en:muscle soft, tissue

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en:secondary myopathic features

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en:muscle biopsy shows atrophic fibers

•

en:muscle weakness and atrophy may be asymmetric

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en:type 1 fiber predominance

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en:myotonic discharges

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en:normal or increased truncal adipose tissue

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

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en:reduced subcutaneous adipose tissue

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en:absence of collagen vi immunostaining

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en:inability to stand on tiptoes

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en:increased muscle glycogen content

•

en:muscle atrophy, mild, more proximal than distal

•

en:biopsy shows dystrophic changes

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:decreased or absent ankle reflexes

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en:distal limb muscle atrophy, lower more than upper

•

en:inability to sit or hold head up

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en:increased staining for myotilin, dystrophin, desmin

•

en:muscle biopsy may show inflammatory changes

•

en:muscle fiber regeneration

•

en:nemaline bodies are rarely intranuclear

•

en:pharyngeal muscle weakness

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en:reduced muscle mass

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en:decreased muscle mass (in some patients)

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en:buffalo hump

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en:progressive muscle weakness

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en:prolonged miniature endplate currents

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en:ragged-red fibers seen on muscle biopsy

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en:repetitive action potentials in response to single nerve stimulation

•

en:uterine muscle may be stiff during pregnancy

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en:vacuolar myopathy may occur

•

en:emg shows myopathic and neurogenic changes

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en:decreased sarcolemmal immunostaining for ptrf

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en:hip abductor weakness and atrophy

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en:isolated necrotic fibers

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en:lipid droplets seen on muscle biopsy

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en:mild muscular hypotonia

•

en:muscle biopsy shows loss of type 2a fibers

•

en:progression to proximal muscle weakness

•

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

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en:some subcutaneous adipose tissue may remain on upper arms

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en:nonspecific muscle fiber atrophy

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en:cytochrome c oxidase-negative fibers

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

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en:distal muscular atrophy due to peripheral neuropathy

•

en:tubular aggregates in muscle fibers may occur

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en:fatty replacement

•

en:gait abnormalities (occurs later)

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en:hypotonic

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en:myopathic and neurogenic changes seen on emg

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en:proximal weakness

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

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

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en:distal muscle weakness due to peripheral neuropathy

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en:muscle aches, intermittent

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en:myopathic pattern seen on emg (in some patients)

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en:painful swelling in aponeuroses

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

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en:dystrophic features and atrophic fibers seen on muscle biopsy

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

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en:lipodystrophy (in some patients)

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en:increased centralized nuclei

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en:mild decrease in mitochondrial respiratory chain activity

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en:muscle biopsy shows ragged red fibers

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en:nonspecific myopathic changes

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en:recovery between attacks

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en:small, angulated muscle fibers seen on muscle biopsy

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en:swelling of the hands and feet, episodic

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en:tibialis anterior muscle affected

•

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

•

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

•

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

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en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

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en:hypertonia at birth

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en:impaired toe-walking

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en:complex v deficiency

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en:sparing of the anterior tibial compartment

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en:type 2 muscle fiber predominance

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en:myalgia (in some patients)

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en:nemaline bodies occur in type 1 fibers

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en:subsarcolemmal mitochondrial aggregates

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en:upper limb involvement occurs later or not at all

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en:muscle fiber splitting

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en:necrotic and regenerating muscle fibers

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en:rectus abdominis muscle separation

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en:reduced muscle bulk

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en:easy bruisability of lower extremities

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en:walking may be limited

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en:calf and thigh cramping muscle pains

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en:increased fatty infiltration

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en:involves upper and lower proximal muscles

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en:muscle biopsy shows fibrosis and increased connective tissue

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en:reduced miniature endplate potential (mepp) amplitude

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en:muscle biopsy shows type 1 fiber predominance and hypertrophy

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en:neonatal hypertonias

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en:nemaline rod formation

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en:myotonia is present in majority of cases

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en:muscle weakness increases with age

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en:muscle weakness and atrophy, progressive

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en:muscle weakness, hypokalemia-related

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en:muscle paralysis, episodic

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en:muscle pain following exercise (in some patients)

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en:muscle cramps during exercise

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en:muscle biopsy shows dystrophic pattern

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en:muscle biopsy shows neurogenic atrophy

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en:muscle biopsy shows myofibrillar changes

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en:muscle biopsy shows grouped atrophy

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en:normal muscle fiber (hcs)

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en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

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en:muscle biopsy shows cytochrome c oxidase-negative fibers

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en:muscle atrophy, progressive

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

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en:mitochondrial dna depletion, severe

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en:mild muscle weakness

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en:mildly increased mtdna

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

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en:paralysis of the lower limbs (later)

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en:normal or increased adipose tissue around the neck

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en:rhabdomyolysis, episodic and recurrent

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en:symptoms may be induced by heat

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en:structurally abnormal mitochondria

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en:spontaneous muscle activity

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en:small or absent axon terminals

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

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en:shoulder weakness and atrophy

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en:shortening of flexor profundus muscle-tendon unit

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

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en:sarcoplasmic accumulation of electron-dense granulofilamentous material

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en:rhabdomyolysis with exercise (in older patients)

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en:rhabdomyolysis

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en:painful adipose tissue

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en:reduced muscle strength (in some patients)

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en:quadriceps atrophy (later onset)

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en:quadriceps aplasia

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

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en:proximal muscle weakness (in some patients)

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en:proximal muscle weakness, lower limbs, mild

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en:progressive distal muscle weakness

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en:postsynaptic abnormalities

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en:peroneal muscle weakness

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en:lymphangiectasia

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en:mildly decreased cytochrome c oxidase activity

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en:increased glycogen

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en:limb-girdle muscle atrophy

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en:congophilic eosinophilic inclusions

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en:degenerative features seen on muscle biopsy

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en:degenerating fibers

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

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en:deep finger muscle weakness

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en:decreased mitochondrial respiratory activities (in some patients)

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

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en:decreased cytochrome c oxidase activity

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en:decreased complex i activity (rare)

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en:decreased activities of complexes i and iv

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en:contractures of upper limbs (in some patients)

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en:clumsiness

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en:disruption plasma membrane (in some patients)

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en:chronic denervation seen on skeletal muscle biopsy

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en:chronic denervation/reinnervation seen on emg

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en:biopsy shows defects in pyruvate oxidation

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en:attacks of weakness

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en:atrophy of neck muscles may occur later

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en:angular fibers (in some patients)

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en:abnormal jitter

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en:abnormal fatigue

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

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en:thickened subcutaneous tissue

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

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en:distal muscle weakness, affecting the lower limbs

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en:isolated mitochondrial complex iv deficiency seen on biopsy

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en:greater sartorius involvement than gracilis involvement seen on mri

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en:increased muscle tone, neonatal (in severely affected patients)

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en:increased fat and fibrous tissue

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en:increased fatigability

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en:inclusion body myopathy

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en:hypotonia (patients a and c)

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en:hypotonia (1 patient)

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en:hypotonia, severe, neonatal

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en:hypoplasia of serratus anterior muscle

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en:hypertonicity of the lower limbs

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en:hand muscle atrophy

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en:generalized muscle weakness (less common)

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en:disuse atrophy

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en:generalized muscle hypertrophy

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en:frequent falls

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en:floppy infant syndrome

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en:fibrous dysplasia (rare)

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en:fiber type variation seen on biopsy

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en:exercise intolerance (cvs+)

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en:exercise-induced muscle fatigue

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

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

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en:easily fatigued (finding)

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en:thenar muscle atrophy

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en:atrophic calf muscles

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en:tubular aggregates mainly in type 1 fibers

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en:muscle cramps may affect jaw muscles

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en:myopathy

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en:myofibromatosis

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en:muscle weakness restricted to the upper limb

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

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en:muscle weakness, severe, diffuse

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

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en:muscle weakness, limb-girdle, mild

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

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en:muscle wasting in lower limbs

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en:muscle hypertonia

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en:muscle cramps at rest

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en:myxedematous appearance

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en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows lipid droplets

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en:muscle biopsy shows intranuclear tubulofilamentous inclusions

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

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en:muscle atrophy affecting the upper back and neck muscles

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

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en:mild weakness of the small hand muscles

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

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

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

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en:myotonia is usually not seen

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en:necrotic and regenerating fibers

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en:lipid storage, mainly in type i fibers

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en:retroperitoneal fibrosis (rare)

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en:weakness worsened by activity

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en:weakness of neck extensors (rare)

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en:type 1 fiber predominance seen on muscle biopsy

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en:variability in fiber size

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

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

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en:soft fleshy palms (50%)

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en:shoulder muscle weakness

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en:scapuloperoneal weakness

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en:rupture of muscle

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

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en:nonspecific myopathy

•

en:reduced muscle tone

•

en:ragged red fibers (in some patients)

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en:quadriceps atrophy

•

en:proximal muscle weakness, limb-girdle distribution

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

•

en:proximal limb muscle weakness initially

•

en:protein aggregates immunopositive for actin and desmin

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

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en:nuclear clumps

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en:normal respiratory chain studies seen on muscle biopsy

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en:loss of ambulation (in some patients)

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en:weakness of anterior compartment tibial muscles

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en:limb-girdle muscle weakness (2 families)

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en:attacks relieved by potassium administration

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en:difficulty running

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en:denervation

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

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en:decremental response to repetitive nerve stimulation

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

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en:decreased postsynaptic achr

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

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en:coenzyme q10 deficiency

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en:changes in sarcoplasmic reticulum and t-tubules

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en:axial hypotonia (in some patients)

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en:attacks precipitated by cold temperature

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en:distal atrophy of the legs

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en:atrophy of shins

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en:atrophic fibers seen on biopsy

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en:ankle edema (finding)

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en:anasarca

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en:abnormal size and shape of synaptic endplates

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en:abnormal mitochondria in skeletal muscle biopsy

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en:abnormal axons with sprouting and swelling

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en:wasting of calf muscles (rare)

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en:type 1 muscle fiber predominance

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en:lack of integrin alpha-7 staining

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en:difficulty walking up stairs

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

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en:distal limb muscle atrophy due to peripheral neuropathy

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en:hypoactive gag reflex

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

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en:knee and hip flexor weakness due to peripheral neuropathy

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en:infantile muscular hypotonia

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en:increased intraabdominal fat

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en:hypotrophy of the small hand muscles

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en:hypotonia (in some patients)

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en:hypotonia, mild (1 patient)

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en:hypotonia, infantile, severe

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en:distal limb muscle weakness, lower more than upper

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en:hypoplasia of muscle

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en:hip girdle muscle atrophy

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en:gowers sign (patient a)

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en:glycogen deficiency in muscle fibers

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en:giant granules in muscle cells

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en:focal lymphocytic and macrophage infiltrates on biopsy

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en:fasciculations (in some patients)

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en:exertional fatigue

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en:exercise-induced muscle stiffness

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en:endomysial fibrosis

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en:emg may show neurogenic changes

•

en:distal muscle weakness occurs later

•

en:distal muscle atrophy due to denervation

•

en:myalgia, episodic

•

en:muscle weakness due to peripheral neuropathy

•

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

•

en:necrosis and degeneration seen on muscle biopsy

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

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

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en:neck muscle hypoplasia

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en:muscle weakness, upper and lower limbs

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en:muscle weakness (in 90% of patients)

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

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en:muscle weakness, severe, axial and proximal predominance

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

•

en:muscle weakness

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en:muscle pain (less common)

•

en:muscle mitochondria normal by histochemical analysis

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en:muscle hypertrophy of the lower extremities

•

en:muscle fatigability

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:nemaline rods (rare)

•

en:small miniature endplate potentials (mepp)

•

en:neurogenic changes seen on emg

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:abnormal jitter seen on emg

•

en:muscle atrophy (variable)

•

en:abnormal distribution of subcutaneous fat

•

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

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en:waddling gait

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en:tubular aggregates seen on biopsy

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en:tremor of the upper limb

•

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

•

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

•

en:tendinous and tuberous xanthoma

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en:stiffness (uncommon)

•

en:normal or increased facial and neck adipose tissue

•

en:some abnormal aggregation of mitochondria

•

en:soft tissue or tendinous calcinosis may occur

•

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

•

en:shortening of various muscle-tendon groups in feet

•

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

•

en:respiratory distress (congenital form)

•

en:proximal muscle weakness in upper limbs

•

en:presynaptic defect at the neuromuscular junction

•

en:poor musculature

•

en:patchy muscle fiber degeneration

•

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

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en:edema at birth

•

en:muscle atrophy, limb-girdle and proximal

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:distal limb muscle weakness (less common)

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:decreased thiamine pyrophosphate

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en:decreased mtdna

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en:decreased lipoic acid

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

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en:decreased immunostaining for alpha-sarcoglycan

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en:decreased ability to run

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en:cox-depleted fibers

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en:centralized nuclei, rare

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en:distal limb muscular weakness due to peripheral neuropathy

•

en:carpopedal spasm

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en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:axial weakness

•

en:axial muscle hyperextension, episodic

•

en:attacks usually decrease or disappear after age 40 years

•

en:attacks precipitated by rest after exercise

•

en:angulated atrophic muscle fibers

•

en:acquired partial lipodystrophy

•

en:abdominal wall muscle weakness (later onset)

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

•

en:distal limb muscle weakness occurs later

•

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

•

en:minimal subcutaneous fat

•

en:increased fibrosis

•

en:mild distal muscle atrophy

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:lower limbs more often affected

•

en:loss of subcutaneous fat, generalized

•

en:lipoatrophic appearance

•

en:limb-girdle muscular dystrophy

•

en:large lipid droplets

•

en:internal nuclei seen on muscle biopsy

•

en:increased fibrosis (in some patients)

•

en:increased endomysial fibrosis

•

en:electromyogram abnormal

•

en:hypotonia at birth

•

en:hypotonia, generalized (in some patients)

•

en:heterotopic bone formation in subcutaneous fat

•

en:hamstring and quadriceps muscles mildly affected

•

en:grip strength decreased

•

en:generalized muscle weakness, proximal and distal

•

en:foot extensor muscle weakness (later onset)

•

en:fiber-type variability

•

en:emg shows fasciculations

•

en:electron microscopy showed z-disk streaming

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:difficulty walking and climbing stairs

•

en:angulated fibers

•

en:myopathy with abnormal lipid metabolism

•

en:poor muscle build

•

en:poor head control

•

en:polyglucosan accumulation

•

en:pelvic girdle weakness

•

en:no lipodystrophy in face and neck

•

en:necrotic muscle fibers

•

en:necrosis

•

en:myotonia is most pronounced in the extremities

•

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

•

en:myopathy (in some patients)

•

en:prominent involvement of the quadriceps femoris muscles

•

en:myopathic changes seen muscle biopsy

•

en:myasthenias

•

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

•

en:muscular dystrophy (in 1 of 3 patients)

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en:muscle weakness, primarily proximal

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, mainly proximal

•

en:muscle rigidity

•

en:muscle pain (in some patients)

•

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

•

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

•

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

•

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

•

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

•

en:atrophy of anterior compartment tibial muscles

•

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

•

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

•

en:walking delay

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:vacuoles are autophagocytic

•

en:upper limb weakness

•

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

•

en:type 1 fiber atrophy

•

en:tetany

•

en:proximal myopathy

•

en:tenderness of lower extremities

•

en:some patients become wheelchair-dependent

•

en:small rounded fibers

•

en:slim, muscular build (in some patients)

•

en:signs of denervation seen on biopsy

•

en:shoulder girdle weakness

•

en:shortening of various muscle-tendon groups in legs

•

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

•

en:rhabdomyolysis, episodic

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:vacuolar degeneration

•

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

•

en:disorganization of the myofibrillar pattern

•

en:enlarged nuclei with central pallor

•

en:emg shows reduction of voluntary recruitment

•

en:emg shows high-frequency spontaneous discharges

•

en:emg shows denervation

•

en:edema, subcutaneous, generalized

•

en:dystrophic skeletal muscle seen on biopsy

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:dystrophic changes

•

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

•

en:deposits immunoreactive to beta-amyloid protein

•

en:exercise-induced muscle cramps

•

en:decreased numbers of achr

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle action potential after warming affected muscle

•

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

•

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

•

en:decreased cytochrome c oxidase staining

•

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

•

en:benign soft tissue developmental anomalies

•

en:atrophy of upper girdle muscles

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:decreased coenzyme q10 content

•

en:facial muscle atrophy of involved side

•

en:increased fiber size variability

•

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

•

en:fatigue

•

en:multiple mitochondrial dna deletions

•

en:mild variability in muscle fiber size

•

en:lymphangitis, episodic

•

en:loss of subcutaneous adipose tissue in limbs

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:lipoma

•

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

•

en:increased focal mitochondrial density

•

en:macroglossia

•

en:increased echo intensity in affected muscles

•

en:granular deposits in the sarcomeres

•

en:inability to jump or squat

•

en:filamentous inclusions in muscle fibers

•

en:fat accumulation in the suprabuttock area

•

en:gluteal hypoplasia

•

en:hyperactive deep tendon reflexes

•

en:fatty deposition

•

en:hyporeflexia

•

en:hypothenar muscle atrophy

•

en:imaging shows muscle atrophy and fatty replacement

•

en:muscle

•

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

•

en:myofibrillar lesions

•

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

•

en:muscle weakness (type i)

•

en:muscle weakness (1 patient)

•

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

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle strength and bulk is preserved

•

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

•

en:muscle hyperirritability

•

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

•

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

•

en:muscle biopsy shows dystrophic features

•

en:muscles have a woody consistency on palpation

•

en:mitochondrial dna deletions (in some patients)

•

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

•

en:myopathic changes seen on biopsy

•

en:marked lack of adipose tissue

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:myokymia

•

en:proximal lower limb amyotrophy

•

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

•

en:proximal muscle weakness (120270.0002)

•

en:thin musculature

•

en:lipohypoplasia, regional

•

en:tetanus-like muscle contractions

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:small endplate

•

en:skeletal muscle may show less severe mtdna deletion

•

en:shoulder muscle weakness (in some patients)

•

en:severe disability within 20 years of onset

•

en:proximal limb muscle weakness (occurs later)

•

en:myopathic features seen on emg

•

en:preserved heel standing

•

en:poor exercise tolerance

•

en:plasma membrane discontinuities

•

en:pelvic girdle weakness and atrophy

•

en:normal sensation

•

en:neurogenic changes

•

en:neurogenic abnormalities seen on emg

•

en:myopathy (rare)

•

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

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

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

•

en:angioedema

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased muscle mass (especially of limbs)

•

en:decreased activity of respiratory complex i+iii

•

en:congophilic amyloid material

•

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

•

en:areflexia of lower limbs

•

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

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:amyotrophy, neurogenic

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:affected muscles show atrophy

•

en:accelerated decay of the synaptic current

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal aggregation of mitochondria

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:weak extraocular muscles

•

en:degrading mitochondria

•

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

•

en:lack of facial subcutaneous fat

•

en:emg shows myopathy

•

en:jitter

•

en:increased centralized internal nuclei

•

en:hypoglycosylation of alpha-dystroglycan

•

en:generalized muscular appearance from birth

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:gastrocnemius and soleus muscles most affected

•

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

•

en:exertional leg pain

•

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

•

en:difficulty rising from chair

•

en:edema, generalized

•

en:dystrophic features

•

en:dystrophic changes, mild, seen on muscle biopsy

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

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

•

en:distal lower limb muscle weakness and atrophy

•

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

•

en:disruption of the m-line

•

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

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:z-line streaming see on electron microscopy

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:myofibrillar disorganization

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness, proximal and distal

•

en:muscle weakness, episodic

•

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

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows multiple mitochondrial dna (mtdna) deletions

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:neurogenic atrophy

•

en:mri may show cervical spinal cord atrophy

•

en:motor clumsiness

•

en:mitochondrial vacuolization seen on muscle biopsy

•

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

•

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

•

en:lower limb atrophy

•

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

•

en:loss of adipose tissue occurs around puberty

•

en:myopathic changes early in disease seen on emg

•

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

•

en:increased visceral fat

•

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

•

en:z-disk streaming

•

en:weakness and wasting of the lower limbs

•

en:vacuolar myopathy

•

en:type 2 fiber hypertrophy

•

en:tendon tears

•

en:subcutaneous lipomatous tissue

•

en:small and incompletely fused muscle fibers seen on biopsy

•

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

•

en:severely decreased or absent lamp2 protein

•

en:normal mitochondrial morphology (1 patient)

•

en:secondary myopathic changes

•

en:scapular muscle atrophy

•

en:sarcoplasmic inclusions

•

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

•

en:predominantly lower limb lymphedema

•

en:postexercise cmap amplitude facilitation

•

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

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:pelvic muscle involvement occurs later

•

en:inguinal hernia

•

en:pelvic girdle muscle atrophy

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:calf muscle enlargement

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased mitochondrial complex v activity

•

en:decreased distal reflexes

•

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:congophilic inclusions

•

en:calf muscle weakness

•

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

•

en:degenerative changes with increased connective tissue

•

en:bilateral foot drop

•

en:attacks precipitated by potassium

•

en:anterior tibial muscles first involved

•

en:angulated atrophic fibers

•

en:adhalin deficiency seen on muscle biopsy

•

en:acetazolamide may worsen symptoms

•

en:increased adipose fibrosis

•

en:abnormalities in myofibril organization

•

en:decreased quantal release

•

en:centralized nuclei may be seen

•

en:denuded postsynaptic regions

•

en:edema

•

en:hypotonia (cvs+)

•

en:hand and foot weakness

•

en:diastasis recti

•

en:hamstring muscle affected

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:fibromyalgia

•

en:fiber size variation seen on muscle biopsy

•

en:fatty infiltration of affected muscles

•

en:electromyogram normal

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:dysarthria

•

en:distal muscle weakness, mild

•

en:distal muscle weakness, lower legs

•

en:distal muscle atrophy, affecting the lower limbs

•

en:distal limb muscle weakness and atrophy

•

en:difficulty walking and climbing stairs (patient a)

•

en:difficulty walking

•

en:difficulty rising from a squatting position

•

en:difficulty in toe walking

•

en:muscle mri shows fatty infiltration

•

en:myogenic changes seen on emg

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle hypertrophy in affected area

•

en:muscle weakness and atrophy

•

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

•

en:muscle weakness, proximal more than distal

•

en:muscular dystrophy (in some patients)

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle fiber necrosis

•

en:loss of ambulation between third and sixth decade

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

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

•

en:muscle biopsy shows atrophy

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:mri shows increased connective tissue and fat

•

en:low maximum workload on exercise testing

•

en:lower limb muscle atrophy

•

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

•

en:necrotic fibers

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

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

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:nemaline bodies

•

en:scapular muscle weakness

•

en:increased variability in muscle fiber diameter

•

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

•

en:trunk muscle atrophy

•

en:thenar amyotrophy (rare)

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:spasm

•

en:small atrophic fibers (in some patients)

•

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

•

en:shortened open achr channel duration

•

en:severe muscle hypotonia at birth

•

en:repetitive response to single nerve stimulation

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:relative sparing of the rectus femoris

•

en:reduced postsynaptic cleft area

•

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

•

en:rectus medial atrophy

•

en:rare necrotic fibers

•

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

•

en:plantar fibromatosis

•

en:paracrystalline inclusions

•

en:normal lamp2 staining (309060)

•

en:nemaline myopathy (in 1 reported male)

•

en:infantile axial hypotonia

•

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

•

en:increased intramuscular fat

•

en:cox-negative fibers seen on muscle biopsy

•

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

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased muscle mitochondrial aconitase

•

en:decreased muscle density on imaging

•

en:decreased mitochondria

•

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

•

en:decreased expression of the vdac1 protein

•

en:decreased endplate potential and amplitudes

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased activity of mitochondrial complexes i and iv

•

en:centrally located nuclei seen on muscle biopsy

•

en:deltoid muscle hypoplasia

•

en:biopsy muscle normal

•

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

•

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

•

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

•

en:ankle clonus

•

en:amyotrophy affects c5 to t1 myotomes

•

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

•

en:absence of some scapular muscles (less common)

•

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

•

en:abnormal mitochondria

•

en:decreased postsynaptic length

•

en:difficulty standing

•

en:increased connective tissue and fat in muscles

•

en:exercise capacity decreased

•

en:hypertonia late

•

en:gowers sign (in some patients)

•

en:glycogen accumulation seen on biopsy

•

en:gait abnormality

•

en:fiber type grouping

•

en:fiber size variation

•

en:fiber-type grouping pattern

•

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

•

en:fatty infiltration

•

en:facial muscle atrophy

•

en:exercise-induced myalgia

•

en:disorganization of the neuromuscular junction

•

en:enteroviral dermatomyositis syndrome

•

en:emg may show myopathic features

•

en:edema of lower extremity

•

en:dystrophic changes seen on muscle biopsy

•

en:dysphonia

•

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

•

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

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal limb muscle atrophy (less common)

•

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

•

en:unable to walk

•

en:pyruvate oxidation defect

•

en:weakness of ankle plantar flexion

•

en:muscle hypertrophy may occur

•

en:myopathic findings on biopsy have been occasionally reported

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness (in some patients)

•

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

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle weakness, congenital

•

en:muscle wasting (especially legs and arms)

•

en:muscle spasticity

•

en:muscle pain with exercise (in older patients)

•

en:muscle hematoma

•

en:no dystrophic changes

•

en:muscle fiber immaturity

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

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

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

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

•

en:muscle biopsy shows centralized nuclei

•

en:muscle atrophy in the limbs

•

en:neonatal edema (in some patients)

•

en:panniculitis

•

en:mtdna depletion seen on muscle biopsy

•

en:secondary loss of merosin and desmin

•

en:virtually no active movement at birth (wws)

•

en:variation in skeletal muscle fiber diameter

•

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

•

en:type 2 muscle fiber atrophy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:triceps aplasia

•

en:thickening of fascia of forearm

•

en:swelling of the affected areas

•

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

•

en:subcutaneous edema

•

en:ring fibers

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:repetitive response to single nerve stimulus

•

en:relative sparing of the tibialis anterior

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal muscle weakness (85% of patients)

•

en:proximal muscle weakness

•

en:proximal and distal muscle atrophy in lower limbs

•

en:proximal amyotrophy

•

en:prolonged endplate potentials

•

en:potassium sensitivity has been reported

•

en:percussion myotonias

•

en:muscle atrophy, primarily in the legs

•

en:type ii fiber atrophy seen on muscle biopsy

•

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

•

en:chronic fatigable muscles

•

en:decreased muscle bulk (in one patient)

•

en:decreased hand grip strength

•

en:decreased collagen vi

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased activity of mitochondrial complex iii

•

en:decreased activity of complexes ii+iii

•

en:decreased achr

•

en:cox-deficient fibers

•

en:congenital muscular dystrophy (disorder)

•

en:congenital absence of gluteal muscles

•

en:chronic denervation seen on emg

•

en:distal muscle atrophy due to neuropathy

•

en:calf hypertrophy (uncommon)

•

en:calf hypertrophy (less common)

•

en:biopsy shows myopathy without vacuoles

•

en:amyotrophy, distal, upper and lower limbs

•

en:absence of caveolin-3 staining

•

en:abnormal muscle tone

•

en:abnormal irregular myofibrillar network

•

en:winged scapula

•

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

•

en:many fibers with internal nuclei

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:widening of the synaptic cleft

•

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

•

en:increased length of endplate regions seen on muscle biopsy

•

en:distal myopathy (in 1 family)

•

en:low muscle mass

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

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

•

en:lipid accumulation in muscle tissue

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:levator palpebrae superioris atrophy

•

en:large hypertrophied fibers

•

en:intranuclear inclusions (1 family)

•

en:increased variation in fiber size seen on muscle biopsy

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:hypotonia from birth to age 12

•

en:emg shows neurogenic changes consistent with denervation

•

en:hypotonia, neonatal (in some patients)

•

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

•

en:emg - repetitive muscle discharges

•

en:emg shows fibrillations

•

en:electromyography shows myotonic discharges

•

en:extensive fatty infiltration on biopsy

•

en:facial paresis

•

en:generalized hypotonia

•

en:hyaline inclusion

•

en:hypoplasia of infraspinatus muscle

•

en:degenerate mitochondrial on em

•

en:difficulty walking, running, climbing stairs

•

en:disorganized myofilaments seen on muscle biopsy

•

en:disruption of sarcomeres with disorganization of the z band

•

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

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:distal muscle wasting, mild

•

en:dorsal and flexor muscles of the forearm are involved

•

en:edema (hands and feet)

•

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

•

en:frontalis muscle weakness

•

en:emg shows myotonic changes

•

en:evidence of lymphatic rerouting

•

en:fat pad between achilles tendon and medial malleolus

•

en:fiber necrosis

•

en:forearm muscle weakness

•

en:generalized muscle wasting

•

en:hangrip myotonia

•

en:histochemically normal type-ii muscle fibers

•

en:hypotonia (untreated hypothyroidism)

•

en:inclusions are tdp43-immunoreactive

•

en:increased fibrosis (family a)

•

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

•

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

•

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

•

en:upper and/or lower limbs may be affected

•

en:internal nuclei

•

en:proximal muscle weakness occurs later

•

en:proximal upper limb amyotrophy

•

en:relatively preserved limb strength

•

en:scapuloperoneal muscular atrophy due to denervation

•

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

•

en:skeletal muscle shows dystrophic changes

•

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

•

en:ubiquinone decreased

•

en:usually a unilateral disorder

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:variation of fiber size and shape

•

en:atrophy of the lower leg muscles

•

en:axial muscle weakness

•

en:a subset of patients develop bilateral weakness

•

en:broad-based gait

•

en:cytoplasmic inclusion bodies (finding)

•

en:decreased caveolae in muscle tissue

•

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

•

en:decreased exercise tolerance

•

en:decreased muscle mass (especially in lower limbs)

•

en:independent walking may not be achieved

•

en:nerve conduction studies normal

•

en:lack of antigravity movements (patient b)

•

en:small miniature endplate currents (mepc)

•

en:onset of lymphedema around puberty

•

en:painful muscle cramps

•

en:prominent musculature

•

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

•

en:rectus fascia separation

•

en:replacement of myofibers with connective tissue

•

en:shortened open channel duration

•

en:shoulder weakness

•

en:small atrophic muscle fibers

•

en:sparing of small hand and finger muscles

•

en:neurogenic changes later in disease seen on emg

•

en:stiffness

•

en:thenar eminence hypoplasia

•

en:toe and foot dorsiflexor weakness

•

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

•

en:upper limb involvement may occur later

•

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

•

en:weakness of the anterior tibial muscle and toe extensors

•

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

•

en:muscular dystrophy, limb-girdle, type 1b (disorder)

•

oedème de la face

•

en:no staining for oxidative enzymes

•

en:neonatal hypotonia

•

en:localized cellulitis

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:loss of ability to walk in early childhood

•

en:loss of subcutaneous fat, diffuse

•

en:minicores or core-like regions may be present

•

en:mitochondrial dna deletion (1 patient)

•

en:muscles do not contract upon electrical stimulation

•

en:muscle atrophy restricted to the upper limb

•

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

•

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

•

en:muscle biopsy shows mitochondrial aggregates

•

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

•

en:necrotic changes (finding)

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle fiber splitting (in some patients)

•

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

•

en:muscular atrophy

•

en:myalgia

•

en:myopathic features seen on biopsy

•

en:myotonia

•

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

•

en:predominance of oxidative fibers

◀

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=7120058 • caches: c1=16 c2=1050 c3=49

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