autosomal recessive spastic paraplegia type 76
ORPHA: 488594
Overview
hereditary spastic paraplegia that has material basis in mutation in the CAPN1 gene on chromosome 11q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal recessive spastic paraplegia type 76, sourced from HPO and Orphanet clinical annotations.
Lower limb spasticityLower limb hyperreflexiaBabinski signAtaxiaDysarthriaPes cavusGait ataxiaSkeletal muscle atrophyLower limb muscle weaknessUpper limb hyperreflexiaPeripheral neuropathyFunctional abnormality of the bladderAbnormality of eye movementLimb ataxiaScoliosisPes valgusAnkle clonus
Classification & Codes
Orphanet Code
ORPHA:488594autosomal recessive spastic paraplegia type 76
| Orphanet | ORPHA:488594 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO