hereditary spastic paraplegia 42
MeSH: C567262ORPHA: 171863
Overview
hereditary spastic paraplegia that has material basis in mutation in the SLC33A1 gene on chromosome 3q25.31
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 42, sourced from HPO and Orphanet clinical annotations.
HyperreflexiaLower limb spasticitySpastic gaitDegeneration of the lateral corticospinal tractsBabinski signLower limb hypertoniaProgressive spastic paraplegiaImpaired vibration sensation in the lower limbsClonusLower limb amyotrophyLower limb muscle weaknessSpinal cord lesionPes cavus
Classification & Codes
MeSH Code
C567262Orphanet Code
ORPHA:171863hereditary spastic paraplegia 42
| MeSH | C567262 |
| Orphanet | ORPHA:171863 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO