hereditary spastic paraplegia 5A
MeSH: C536871ORPHA: 100986
Overview
hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has material basis in mutation in the CYP7B1 gene on chromosome 8q12
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 5A, sourced from HPO and Orphanet clinical annotations.
Spastic paraplegiaLower limb spasticityImpaired vibratory sensationBabinski signLower limb muscle weaknessAbnormality of the urinary systemAbnormal cerebellum morphologyPes cavusAbnormal cerebral white matter morphologyLower limb amyotrophyAnkle clonusLimb ataxiaTruncal ataxiaAtrophy of the spinal cordSensorineural hearing impairmentCataractNystagmusDysarthriaPolyneuropathyDysphagiaScoliosisUpper limb muscle weaknessUpper limb spasticityUpper limb amyotrophy
Classification & Codes
MeSH Code
C536871Orphanet Code
ORPHA:100986hereditary spastic paraplegia 5A
| MeSH | C536871 |
| Orphanet | ORPHA:100986 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO