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Episodic Ataxia

Episodic Ataxia



Overview

Ataxia is a neurological condition that causes problems with movement, balance and speaking. There are different types of ataxia. Episodic ataxia (EA) is one type. EA causes periods (episodes) of movement and balance problems. These episodes have a clear beginning and end. There may be some symptoms that also persist between these episodes.

What are other types of ataxia?

There are many types of ataxia. Your provider determines what type you have based on your symptoms and how the condition developed. Some types of ataxia are progressive (always present, gradually worsening over time). Some types of ataxia are inherited from your parents (genetic), while other types begin suddenly or because of a degenerative condition (acquired).

Different types of ataxia cause different symptoms, like problems with:

Muscle

Swallowing.

Who might get episodic ataxia?

People who have changes (mutations) in certain genes from their parents might develop episodic ataxia. But some gene mutations happen on their own (spontaneously) with no family history. The age of onset for episodic ataxia — the age when you first notice symptoms — can vary.

How common is episodic ataxia?

Episodic ataxia is rare. Experts think it occurs in about 1 out of 100,000 people.

How does episodic ataxia affect me?

If you have episodic ataxia, you might have trouble walking, balancing or moving for a few minutes or a few hours. These episodes can happen every day or only occasionally.

Symptoms and Causes

What are the symptoms of episodic ataxia?

Trouble moving and balancing are the main symptoms of episodic ataxia. You might fall or feel clumsy.

During an episode, you might also have:

Dizziness.

Headache.

Involuntary eye movements (nystagmus).

Double vision.

Nausea and vomiting.

Paralysis on one side (hemiplegia).

Ringing noise in the ears (tinnitus).

Slurred speech (dysarthria).

What causes episodic ataxia?

Researchers think gene mutations cause episodic ataxia. Experts have identified the gene mutations that cause some types of EA. They’re continuing to research other genetic causes of EA. Episodic ataxia diagnosis can be complex.

What are the types of episodic ataxia syndrome?

To date, at least eight different episodic ataxia types (syndromes) have been identified. Experts have identified3e gene mutations associated with several, including:

Episodic ataxia type 1 (EA1): Changes to the KCNA1 gene cause EA1. Symptoms of this EA syndrome, which often begins in early childhood, include twitching or stiff muscles. There is sometimes a link between episodic ataxia 1 and epilepsy.

Episodic ataxia type 2 (EA2): Changes to the CACNA1A gene cause EA2, the most common type of episodic ataxia. Nystagmus is a common symptom of EA2, which often begins in childhood or early adolescence.

In people with EA1 and EA2, certain behaviors or conditions may bring on episodes. These include:

Emotional stress.

Physical stress.

Are some types of episodic ataxia rarer than others?

Some types of EA are so rare that experts have only identified them in one or two families. These include:

Episodic ataxia type 3 (EA3).

Episodic ataxia type 4 (EA4).

Episodic ataxia type 5 (EA5).

Episodic ataxia type 6 (EA6).

Episodic ataxia type 7 (EA7).

Episodic ataxia type 8 (EA8).

Researchers have identified some of the genes associated with these EA types. But they're still learning about others.

Diagnosis and Tests

How do healthcare providers diagnose episodic ataxia?

Your healthcare provider does a physical examination and talks with you about your symptoms. They also ask about ataxia in any family members.

You may meet with a brain and nervous system specialist (neurologist). They may do more tests to confirm an episodic ataxia diagnosis.

What tests do healthcare providers do to diagnose episodic ataxia?

Your healthcare provider may recommend tests to look at your brain and nerves. These tests include:

CT scan.

Electromyogram.

MRI.

Your provider may also recommend genetic testing. They look for genetic mutations associated with episodic ataxia.

Management and Treatment

Can episodic ataxia be cured?

Episodic ataxia isn’t curable. But your healthcare provider will recommend strategies and medications to manage your symptoms and help you live an active, independent life.

Are there episodic ataxia treatments that can help?

Depending on your symptoms, healthcare providers may recommend medications that block nerve channels. These medications can help control or reduce ataxia episodes.

Other medications help with certain symptoms like nystagmus or seizures. Researchers are studying new ways that medications can help people with EA.

You may also have physical therapy to help you get stronger and improve problems with walking (gait disorders).

What can’t I eat or drink if I have episodic ataxia?

Talk to your healthcare provider about any foods or drinks that might make ataxia episodes worse, like caffeine. Researchers are still studying how certain foods and drinks affect EA.

How can I manage episodic ataxia?

Your healthcare provider can help. In general, it’s important to:

Eat a healthy diet.

Follow your healthcare provider’s recommendations for exercise.

Get good sleep.

Type of Doctor Department :  A neurologist

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