Living with Episodic ataxia type 2
An inherited condition with episodes of poor balance and coordination lasting hours, often with dizziness.
Understanding Episodic ataxia type 2
Between episodes, people may have rapid eye movements (nystagmus) and mild balance trouble that slowly gets worse. It usually begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Dizzy spells (vertigo)
- Fast, rhythmic eye movements (nystagmus)
- Slurred speech (dysarthria)
- Migraine
- Nausea and vomiting
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 CACNA1A 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
CACNA1A Foundation and 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: CACNA1A Foundation, 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 CACNA1A 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
Changes in the CACNA1A gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: acetazolamide-responsive hereditary paroxysmal cerebellar ataxia; ataxia, episodic, with nystagmus; ataxia, familial paroxysmal; cacna1a hereditary episodic ataxia; cerebellar ataxia, paroxysmal, acetazolamide-responsive; cerebellopathy, hereditary paroxysmal
Patient organizations
- CACNA1A FoundationEpisodic ataxia type 2 · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with Episodic ataxia type 2.
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