Аутосомно-рецесивна спастична параплегія, тип 24
ORPHA:101004· ICD-10 G11.4· Autosomal recessive spastic paraplegia type 24
Визначення(English summary)
A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy