Living with Episodic ataxia type 1
An inherited condition with short episodes of poor balance and coordination, plus muscle stiffness or twitching.
Understanding Episodic ataxia type 1
It can also cause muscle stiffness (neuromyotonia) and muscle twitching between episodes (myokymia). It usually begins in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and clumsiness
- Muscle twitching (myokymia)
- Muscle stiffness or spasms
- Slurred speech (dysarthria)
- Dizzy spells (vertigo)
- Blurred or double vision
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in KCNA1 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 and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: National Ataxia Foundation, Epilepsy 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 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 KCNA1 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 periodic ataxia; ataxia, episodic, with myokymia; continuous muscle fiber activity; ea1; episodic ataxia type 1 (ea1); episodic ataxia with myokymia
Patient organizations
- National Ataxia FoundationEpisodic ataxia type 1 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Episodic ataxia type 1.
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