Living with Cerebellar hypoplasia-tapetoretinal degeneration syndrome
A rare condition with a small cerebellum, retina changes, developmental delay, and trouble with language.
Understanding Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Intellectual disability can range from mild to moderate, with a strong delay in language. It shows up in infancy with early developmental delay, low muscle tone, unsteady movement that does not worsen, and eye shaking. Vision problems do not worsen over time, or retina changes may cause no symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small cerebellum (cerebellar hypoplasia)
- Poor coordination (ataxia)
- Low muscle tone (hypotonia)
- Eye shaking (nystagmus)
- Retina color changes
- Optic nerve damage (optic atrophy)
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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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, but doesn't list a specific gene or how it is inherited.
Also known as: cerebellar hypoplasia and tapetoretinal degeneration; congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration
Patient organizations
Rare-disease groups that can help
- 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 Cerebellar hypoplasia-tapetoretinal degeneration syndrome.
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