hereditary spastic paraplegia 8
MeSH: C536867ORPHA: 100989
Overview
hereditary spastic paraplegia that has material basis in mutation in the KIAA0196 gene on chromosome 8q24
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 8, sourced from HPO and Orphanet clinical annotations.
Pes cavusGait disturbanceHyperreflexiaLower limb spasticityDegeneration of the lateral corticospinal tractsBabinski signProgressive spastic paraplegiaUrinary urgencyUrinary incontinenceSpastic gaitLimb ataxiaImpaired vibration sensation in the lower limbsLimb dysmetriaMuscle spasmLower limb muscle weaknessPeroneal muscle atrophySpinal cord lesionClonusUpper limb spasticity
Classification & Codes
MeSH Code
C536867Orphanet Code
ORPHA:100989hereditary spastic paraplegia 8
| MeSH | C536867 |
| Orphanet | ORPHA:100989 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO