Diko : en:preserved nerve terminals seen on muscle biopsy

en:preserved nerve terminals seen on muscle biopsy

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Langue:anglais

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source:wiki

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umls:C4230240

Associations d'idées

[F]

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50+

nerf ▷

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biopsie

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muscle ▷

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en:preserved ▷?

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en:muscle cramps, painful, recurrent

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en:fiber size variation seen on muscle biopsy

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en:pain or cramping during sustained manual activity

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en:muscle atrophy (variable)

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en:calf pseudohypertrophy rare

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en:muscle weakness, upper and lower limbs

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en:onset of weakness in hands and feet

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en:increased central nucleation

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en:muscle atrophy later in the disease

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en:muscles become hard and tender during exercise

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en:no dystrophic changes

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en:muscle atrophy, mild, more proximal than distal

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en:myopathy, nonprogressive

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en:hypoplasia of supraspinatus muscle

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en:muscle biopsy may show inflammatory changes

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en:increased muscle lipid content

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en:muscle biopsy shows rimmed vacuoles

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en:muscle biopsy shows increased variation in fiber size

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en:muscle atrophy appears later in disease course

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en:absence of telethonin protein

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en:muscle biopsy shows degenerating endplates and junctional folds

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en:limb muscle weakness, proximal, upper and lower

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en:poor exercise tolerance

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en:poor muscle bulk

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en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

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en:red-ragged fibers (2p21del)

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en:muscle biopsy shows myofibrillar disruption

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en:difficulty rising from chair

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en:muscle biopsy shows variation in fiber size

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en:muscle biopsy shows intranuclear tubulofilamentous inclusions

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en:hypotonia (2 patients)

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en:normal or increased facial and neck adipose tissue

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en:enlarged mitochondria

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en:loss of truncal subcutaneous adipose tissue

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en:myopathy (rare)

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

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en:other mitochondrial complex enzyme activities may also be decreased

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en:pseudoathletic appearance with prominent muscles before disease onset

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en:progression to wheelchair in fourth decade

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

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en:progressive distal muscle weakness

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en:potassium sensitivity has been reported

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en:nemaline bodies are rarely intranuclear

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en:myofibrillar disintegration

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en:muscle pain with exercise (in older patients)

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en:proximal muscle weakness (85% of patients)

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50+

hypoplasie glutéale

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en:decreased muscle bulk (in one patient)

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

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

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en:muscle atrophy, limb-girdle and proximal

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en:hip flexor weakness

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en:increased connective tissue

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en:no rods

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

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en:muscle biopsy shows small rounded fibers

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

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en:nemaline bodies occur in type 1 fibers

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en:muscle weakness, severe, diffuse

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

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en:muscle pain and cramps following exercise

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en:muscle weakness and atrophy may be asymmetric

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en:normal or increased facial and neck adipose tissue

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en:muscle atrophy appears later in disease course

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

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en:calf muscle discomfort

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en:muscle weakness, particularly of the lower limbs

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en:nemaline rod formation

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en:rectus abdominis muscle separation

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en:absence of necrosis

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en:reduced muscle bulk

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en:muscle biopsy shows myofibrillar disruption

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en:increased fibrosis (in some patients)

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

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en:weakness worsened by activity

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

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en:upper limb muscle hypoplasia

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en:degenerating nerve terminals

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en:edema (hands and feet)

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en:muscle weakness is not a feature

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

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en:increased variation in muscle fiber diameter

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en:gluteal hypoplasia

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en:decreased muscle mitochondrial aconitase

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en:loss of ambulation between third and sixth decade

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en:difficulty rising from chair

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

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en:normal neonatal period may occur before weakness is apparent

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en:rhabdomyolysis, episodic and recurrent

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en:tubular aggregates in muscle fibers may occur

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en:congophilic staining

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en:gait abnormalities (occurs later)

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en:proximal muscle weakness (occasional)

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

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en:variable decreases in mitochondrial respiratory complex enzyme activities

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en:distal muscle atrophy due to denervation

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Génériques

[F] [H]

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en:preserved ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094545 • caches: c1=82 c2=389 c3=1035

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