Living with Cerebellar dysfunction with variable cognitive and behavioral abnormalities
A rare inherited condition starting in infancy that affects coordination, development, and behavior.
Understanding Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Some babies have low muscle tone and mild developmental delay. Later in life, intellectual disability may follow. Less common features include slurred speech, trouble judging movements, and facial differences such as a long face and pointed chin.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination and balance (ataxia)
- Autistic behavior
- Aggressive behavior
- Differences in social behavior
- Cross-eyed (strabismus)
- Constipation
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.
- 3Consider genetic testing
Changes in CAMTA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
Changes in the CAMTA1 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: camta1-related disorder; cecba; cerebellar ataxia, nonprogressive, with intellectual disability; non-progressive cerebellar ataxia with intellectual disability; nonprogressive cerebellar ataxia with intellectual disability; nonprogressive cerebellar atxia with intellectual disability
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 Cerebellar dysfunction with variable cognitive and behavioral abnormalities.
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