Аутосомно-рецесивна спастична параплегія, тип 59
ORPHA:401795· ICD-10 G11.4· Autosomal recessive spastic paraplegia type 59
Визначення(English summary)
A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy