hereditary spastic paraplegia 17
MeSH: C536644ORPHA: 100998
Overview
hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12
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 hereditary spastic paraplegia 17, sourced from HPO and Orphanet clinical annotations.
HyperreflexiaAbnormality of the foot musculatureSpastic gaitBabinski signFoot dorsiflexor weaknessHand muscle atrophySplit handPes planusPostural tremorDistal sensory impairmentDistal amyotrophyHand muscle weaknessHip painKnee painAnkle weaknessAbnormal motor nerve conduction velocity
Classification & Codes
MeSH Code
C536644Orphanet Code
ORPHA:100998hereditary spastic paraplegia 17
| MeSH | C536644 |
| Orphanet | ORPHA:100998 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO