hereditary spastic paraplegia 4
MeSH: C536865ORPHA: 100985
Overview
hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has material basis in mutation in the SPAST gene on chromosome 2p22
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 4, sourced from HPO and Orphanet clinical annotations.
Urinary urgencySpasticityBrisk reflexesLower limb spasticityBabinski signFunctional motor deficitImpaired vibration sensation at anklesLower limb muscle weaknessLeg muscle stiffnessAnkle clonusDysarthriaPes cavusUrinary bladder sphincter dysfunctionDistal amyotrophyUpper limb hyperreflexiaCognitive impairmentIntellectual disabilitySeizureAtaxia
Classification & Codes
MeSH Code
C536865Orphanet Code
ORPHA:100985hereditary spastic paraplegia 4
| MeSH | C536865 |
| Orphanet | ORPHA:100985 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO