Аутосомно-рецесивна спастична параплегія, тип 56
ORPHA:320411· ICD-10 G11.4· Autosomal recessive spastic paraplegia type 56
Визначення(English summary)
A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal