hereditary spastic paraplegia 46
ORPHA: 320391
Overview
gene (9p13.2) encoding non-lysosomal glucosylceramidase.
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 46, sourced from HPO and Orphanet clinical annotations.
CataractAtaxiaGait disturbanceLower limb spasticityBabinski signCerebellar atrophyCerebral atrophyCerebral cortical atrophyAbnormal cerebral white matter morphologyCorpus callosum atrophyCognitive impairmentUrinary incontinenceHearing impairmentNystagmusDementiaInfertilityHyperreflexiaPes cavusTruncal ataxiaBroad-based gaitHead tremorSpastic dysarthriaScoliosisPeripheral axonal neuropathyImpaired vibration sensation at anklesUpper limb spasticityAbnormal pyramidal signJerky ocular pursuit movementsDecreased testicular sizeReduced sperm motilityAbnormal sperm morphologyAbnormal sperm head morphologyAbnormal tendon morphology
Classification & Codes
Orphanet Code
ORPHA:320391hereditary spastic paraplegia 46
| Orphanet | ORPHA:320391 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO