Living with Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
A very rare inherited condition with muscle wasting, poor coordination, eye changes, and diabetes, starting in the teen years.
Understanding Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
It is a hereditary ataxia (a condition with poor coordination). It involves muscle wasting from nerve problems, reduced feeling, damage to the retina, and diabetes. It starts in adolescence and changes slowly over time. There have been no further descriptions in the medical literature since 1983.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Muscle disease (myopathy)
- Changes in the eye's retina
- Type 2 diabetes
- Reduced feeling (hypesthesia)
- Muscle wasting
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: furukawa takagi nakao syndrome; furukawa-takagi-nakao syndrome; muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.
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