Аутосомно-рецесивна спастична параплегія, тип 62
ORPHA:401785· ICD-10 G11.4· Autosomal recessive spastic paraplegia type 62
Визначення(English summary)
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy