neuropathy, ataxia, and retinitis pigmentosa
MeSH: C537396ORPHA: 644
Overview
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy
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 neuropathy, ataxia, and retinitis pigmentosa, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentRod-cone dystrophyOptic disc pallorBlindnessNystagmusDementiaIrritabilitySensory neuropathyConstriction of peripheral visual fieldRetinal arteriolar tortuositySeizureAtaxiaGlobal developmental delayVentriculomegalyCerebral cortical atrophyHeadacheMuscle spasmBabinski signProximal muscle weaknessMyoclonic spasmsShort statureCorticospinal tract atrophyProgressive gait ataxiaRetinal pigment epithelial mottlingSevere intellectual disabilityAbnormal basal ganglia MRI signal intensityAbnormal visual field test
Classification & Codes
MeSH Code
C537396Orphanet Code
ORPHA:644neuropathy, ataxia, and retinitis pigmentosa
| MeSH | C537396 |
| Orphanet | ORPHA:644 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO