hereditary spastic paraplegia 45
ORPHA: 320396
Overview
hereditary spastic paraplegia that has material basis in mutation in the NT5C2 gene on chromosome 10q24
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 45, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilitySpastic paraplegiaLower limb spasticitySpastic gaitBabinski signFlexion contracture of toeKnee flexion contractureAnkle flexion contractureGlobal developmental delayMotor delayHyperreflexiaPendular nystagmusMyopiaOptic atrophy
Classification & Codes
Orphanet Code
ORPHA:320396hereditary spastic paraplegia 45
| Orphanet | ORPHA:320396 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO