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This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.
Features include: Diabetes mellitus, Skeletal muscle atrophy, Ataxia, and Rod-cone dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 1 | Diabetes mellitus |
Bones and joints |
Biomarker and diagnostic research for muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
119 publications have been identified in PubMed for muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (13%), and Other (9%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 76 |
Data assembled from 6 of 12 sources · Last updated Oct 2, 2026, 11:00 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Skeletal muscle atrophy |
Muscles | 1 | Skeletal muscle atrophy |
Brain and nerves | 1 | Ataxia |
Laboratory research | 15 | 13% |
Other research | 11 | 9% |
Patient case studies | 6 | 5% |
Disease patterns and progression | 5 | 4% |
New treatment approaches | 3 | 3% |
Testing and diagnosis research | 2 | 2% |
Clinical study results | 1 | 1% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Manto M (2026). [PMID: 41663552](https://pubmed.ncbi.nlm.nih.gov/41663552/). *J Neurol*. [Other]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Glassner VO (2025). [PMID: 41330877](https://pubmed.ncbi.nlm.nih.gov/41330877/). *Prenatal diagnosis*. [Clinical Trial Publication]
Chiang CE (2025). [PMID: 40605133](https://pubmed.ncbi.nlm.nih.gov/40605133/). *Journal of the Chinese Medical Association : JCMA*. [Review / Meta-Analysis]
Quansah DY (2025). [PMID: 41276872](https://pubmed.ncbi.nlm.nih.gov/41276872/). *Cardiovascular diabetology. Endocrinology reports*. [Case Report / Case Series]
Peterpalaniswami KM (2025). [PMID: 40520344](https://pubmed.ncbi.nlm.nih.gov/40520344/). *Case reports in medicine*. [Case Report / Case Series]
Bashir M (2025). [PMID: 40171357](https://pubmed.ncbi.nlm.nih.gov/40171357/). *Cureus*. [Case Report / Case Series]
Valle MS (2025). [PMID: 41226798](https://pubmed.ncbi.nlm.nih.gov/41226798/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]