This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
The limited documentation for this condition is largely due to its extreme rarity, which restricts the number of individuals studied and the availability of systematic clinical data. As a result, many clinical features have not been thoroughly characterized, leaving patients and families with unanswered questions about the condition.
To navigate your care effectively, consider consulting with a neurologist who has expertise in hereditary ataxias and related disorders. Additionally, the Muscular Dystrophy Association (http://mdausa.org) offers resources and support for families affected by muscular dystrophies and related conditions. Participating in patient registries or natural history studies may also provide valuable insights and connect you with ongoing research efforts. Genetic counseling could be beneficial, especially given the autosomal dominant inheritance pattern, to understand risks for family members.
There are several orphan drugs designated for this condition, indicating ongoing research efforts. Notably, these include therapies targeting various aspects of the condition, such as gene therapy and other innovative treatments. Currently, there are 2 active clinical trials available for participation. For more information, you can search for trials at ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=muscular%20atrophy-ataxia-retinitis%20pigmentosa-diabetes%20mellitus%20syndrome.
Actionable guidance for navigating care for muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
To navigate your care effectively, consider consulting with a neurologist who has expertise in hereditary ataxias and related disorders. Additionally, the Muscular Dystrophy Association (http://mdausa.org) offers resources and support for families affected by muscular dystrophies and related conditions. Participating in patient registries or natural history studies may also provide valuable insights and connect you with ongoing research efforts. Genetic counseling could be beneficial, especially given the autosomal dominant inheritance pattern, to understand risks for family members.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome community
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.