Living with Ataxia-tapetoretinal degeneration syndrome
A rare inherited condition with balance problems and degeneration of the back of the eye that start together.
Understanding Ataxia-tapetoretinal degeneration syndrome
The eye changes involve the retina and choroid and include macular degeneration and retinitis pigmentosa. It can start at a variety of ages.
Signs & symptoms
GARD lists these among the less common symptoms:
- Poor balance and coordination (ataxia)
- Abnormal walking
- Rapid eye movements (nystagmus)
- Low muscle tone
- Small or absent cerebellum
- Cognitive impairment
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 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); 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 (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: tapetoretinal degeneration with ataxia
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 Ataxia-tapetoretinal degeneration syndrome.
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- Recruiting studies from ClinicalTrials.gov
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