muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

MeSH: C538193ORPHA: 2579

Overview

This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

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 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome, sourced from HPO and Orphanet clinical annotations.

AtaxiaMyopathyType II diabetes mellitusAbnormal retinal pigmentation

Classification & Codes

MeSH Code

C538193

Orphanet Code

ORPHA:2579
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
MeSHC538193
OrphanetORPHA:2579
Treatments0 drug(s)
Symptoms on record4 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO