hereditary spastic paraplegia 43
ORPHA: 320370
Overview
hereditary spastic paraplegia that has material basis in mutation in the C19ORF12 gene on chromosome 19q12
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 43, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceSpastic gaitSpastic paraparesisDistal muscle weaknessBabinski signDistal amyotrophyPoor fine motor coordinationSpasticityGeneralized hypotoniaBrisk reflexesPes cavusImpaired vibratory sensationAbsent Achilles reflexKnee flexion contractureAnkle flexion contractureHyperactive patellar reflexFlexion contracture of finger
Classification & Codes
Orphanet Code
ORPHA:320370hereditary spastic paraplegia 43
| Orphanet | ORPHA:320370 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO