Living with COACH syndrome
A rare form of Joubert syndrome that mainly affects the brain and liver, causing learning disability, poor coordination, and liver scarring.
Understanding COACH syndrome
Most people have intellectual disability, liver scarring (fibrosis), and difficulty with movement (ataxia). Some also have an eye gap (coloboma) or abnormal eye movements such as nystagmus. It is considered a rare form of Joubert syndrome. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Poor coordination (ataxia)
- Liver scarring (fibrosis)
- Small or missing cerebellum
- Eye gap (coloboma)
- Abnormal eye movements (nystagmus)
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, digestive 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); Digestive system specialists (gastroenterologists); 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 Joubert Syndrome & Related Disorders Foundation and other patient organizations
- 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 about 70% of cases are thought to be caused by changes in the TMEM67 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis; coach (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome; coach1; gentile syndrome
Patient organizations
- Joubert Syndrome & Related Disorders FoundationCOACH syndrome · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with COACH syndrome.
Explore research for COACH syndrome
Explore actively recruiting COACH syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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