Аутосомно-домінантна спастична параплегія, тип 9А
ORPHA:447753· ICD-10 G11.4· Autosomal dominant spastic paraplegia type 9A
Визначення(English summary)
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Infancy