Autosomal dominant spastic paraplegia type 38
ORPHA:171617· ICD-10 G11.4
Definition
A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood