Episodic ataxia type 3

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ORPHA:79135OMIM:606554G11.8
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1Specialists8Treatment centers

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Overview

Episodic ataxia type 3 (EA3) is a very rare inherited neurological condition that causes sudden, repeated episodes of poor coordination and balance (called ataxia). During these episodes, a person may feel unsteady, have trouble walking, and experience dizziness or vertigo — a spinning sensation. Episodes can last from a few minutes to several hours and may happen many times a day or only occasionally. Between episodes, most people feel completely normal, which is one of the hallmark features of this condition. EA3 belongs to a group of conditions called episodic ataxias, all of which share this pattern of coming-and-going coordination problems. EA3 is thought to be caused by changes in a gene that affects how nerve cells communicate, though the exact gene responsible is still being studied and confirmed. Triggers for episodes can include stress, fatigue, sudden movement, or illness. Treatment focuses on reducing how often and how severe the episodes are. Medications such as acetazolamide, which is used for other types of episodic ataxia, may be tried, though evidence specific to EA3 is limited. There is currently no cure. Most people with EA3 can live relatively normal lives between episodes, but the unpredictable nature of attacks can affect daily activities, work, and quality of life.

Also known as:

Key symptoms:

Sudden episodes of poor balance and coordination (ataxia)Dizziness or spinning sensation (vertigo)Unsteady walking during episodesTinnitus (ringing in the ears) during episodesNausea during episodesDiplopia (double vision) during some episodesHeadache associated with episodesNormal neurological function between episodesEpisodes that can be triggered by stress or fatigue

Clinical phenotype terms (7)— hover any for plain English
Episodic ataxiaHP:0002131MyokymiaHP:0002411HemiplegiaHP:0002301
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Episodic ataxia type 3.

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No actively recruiting trials found for Episodic ataxia type 3 at this time.

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Specialists

1 foundView all specialists →

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Episodic ataxia type 3.

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Community

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Caregiver Resources

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Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What type of genetic testing do you recommend to confirm or better understand my diagnosis?,Should I try acetazolamide, and what are the risks and benefits for my specific situation?,Are there known triggers I should avoid, and how do I identify my personal triggers?,What should I do — and what should my family do — when an episode starts?,Is it safe for me to drive or work in my current job?,Are there any clinical trials or research studies I could participate in?,What are the chances that my children or other family members could have this condition?

Common questions about Episodic ataxia type 3

What is Episodic ataxia type 3?

Episodic ataxia type 3 (EA3) is a very rare inherited neurological condition that causes sudden, repeated episodes of poor coordination and balance (called ataxia). During these episodes, a person may feel unsteady, have trouble walking, and experience dizziness or vertigo — a spinning sensation. Episodes can last from a few minutes to several hours and may happen many times a day or only occasionally. Between episodes, most people feel completely normal, which is one of the hallmark features of this condition. EA3 belongs to a group of conditions called episodic ataxias, all of which share t

How is Episodic ataxia type 3 inherited?

Episodic ataxia type 3 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Episodic ataxia type 3?

1 specialists and care centers treating Episodic ataxia type 3 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.