posterior column ataxia-retinitis pigmentosa syndrome
MeSH: C536343ORPHA: 88628
Overview
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa
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 posterior column ataxia-retinitis pigmentosa syndrome, sourced from HPO and Orphanet clinical annotations.
Chronic painFlexion contracture of fingerTruncal titubationAbnormal sensory nerve conduction velocityBowel incontinenceCataractSeizureAreflexiaAtaxiaImpaired vibration sensation in the lower limbsImpaired proprioceptionRod-cone dystrophyVisual lossPigmentary retinopathyNyctalopiaIntellectual disabilityGait disturbanceGeneralized hypotoniaGait ataxiaSpicular pigmentation of the retinaAxonal degenerationAbnormal peripheral nerve morphology by anatomical siteAbnormal spinal cord morphologyDelayed gross motor developmentPositive Romberg signGastrointestinal dysmotilityScoliosisOsteomyelitisKyphosisMuscle spasmCamptodactyly
Classification & Codes
MeSH Code
C536343Orphanet Code
ORPHA:88628posterior column ataxia-retinitis pigmentosa syndrome
| MeSH | C536343 |
| Orphanet | ORPHA:88628 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO