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Синдром нижнього моторного нейрона з пізнім початком у дорослому віці

ORPHA:276435· ICD-10 G12.1· Lower motor neuron syndrome with late-adult onset

Визначення(English summary)

A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adult