Аутосомно-домінантна спастична параплегія, тип 9B
ORPHA:447757· ICD-10 G11.4· Autosomal dominant spastic paraplegia type 9B
Визначення(English summary)
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Infancy