Living with Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
A rare genetic condition with steady balance problems, developmental delay, and eye movement and vision problems.
Understanding Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
People have ataxia (balance and coordination trouble) that does not get worse over time, delayed motor and language development, and intellectual disability. Eye problems can include trouble starting eye movements (oculomotor apraxia), crossed eyes, lazy eye, retinal changes, and nearsightedness. Brain scans show cysts and differences in the cerebellum. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with balance and coordination (ataxia)
- Delayed development
- Intellectual disability
- Trouble starting eye movements (oculomotor apraxia)
- Crossed eyes (strabismus) and lazy eye (amblyopia)
- Fluid-filled cysts in the cerebellum
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.
- 3Consider genetic testing
Changes in LAMA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the LAMA1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome; poretti boltshauser syndrome; poretti-boltshauser syndrome
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 Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome.
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