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