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Table of Contents
Types
Causes
Diagnosis
Treatment
Episodic ataxia is a group of uncommon disorders that cause periods during which a person is unable to control bodily movements (ataxia). Episodes can last anywhere from seconds to days and can occur several times a day or once or twice every few months.
In some people, ataxia gets progressively worse. In others, it may disappear over time. The life expectancy of someone with episodic ataxia is not any shorter.
This article explains the different types and causes of episodic ataxia. It also covers how episodic ataxia is diagnosed and treated.
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Types of Episodic Ataxia
Episodic ataxia is uncommon and affects fewer than one in 100,000 people. There are at least 11 types of episodic ataxia. Type 2 is the most common.
Episodes of poor coordination and balance characterize all types of episodic ataxia. The exact symptoms, duration, severity, and triggers of the ataxic episodes vary from type to type.
Episodic Ataxia Type 1
The easiest way to test for EA1 is to getgenetic testing. An MRI may be done to rule out other potential causes of ataxia, but in the case of EA1, an MRI will only show mild shrinkage of the middle of the cerebellum which is called the vermis.
Episodic Ataxia Type 2
Episodic ataxia type 2 (EA2) is associated with attacks of severevertigo(dizziness) and sometimes nausea and vomiting that last from hours to days.Nystagmus, a condition in which the eyes move repetitively and uncontrollably, can be present not only during but also between attacks.
Unlike EA1, episodic ataxia type 2 can lead to injury to the cerebellum, the part of the brain responsible for coordination. Due to this slowly worsening damage, people with EA2 can lose voluntary control of the muscles in between their periodic attacks as well. Like EA1, people with EA2 usually first feel symptoms in adolescence.
Other Episodic Ataxias
The remaining episodic ataxia are very rare. Many of the less common episodic ataxia are very similar in appearance to EA1 and EA2 but have different genetic mutations as the cause. Each of these subtypes has been reported in only one or two families.
Not all types of episodic ataxia are numbered, such as episodic ataxia withparoxysmal choreoathetosisand spasticity. Paroxysmal choreoathetosis refers to uncontrollable movements of the arm, leg, face, and body muscles. There is also episodic ataxia of late onset which typically occurs after 60 years of age in people with nofamily history. This form progresses slowly and does not respond well to treatment.
Causes of Episodic Ataxia
Episodic ataxia is agenetic disorderthat is inherited from a biological parent. It is autosomal dominant, meaning only one parent needs to have the abnormal gene for it to be passed down to the child. However, sometimes the mutation can occur on its own.
Diagnosis of Episodic Ataxia
Before reaching a diagnosis of a relatively rare disorder like episodic ataxia, healthcare providers will want to rule out other more common causes of ataxia. However, if there is a clear family history of ataxia, it may be worth obtaining genetic testing.
Most physicians recommend working with agenetic counselorwhen seeking this kind of testing. While the results of a genetic test may seem straightforward, there are often important nuances that might otherwise be overlooked. It is important to know what a genetic test means not only for you but your family as well.
Treatment for Episodic Ataxia
Symptoms of both EA1 and EA2 improve withacetazolamide, a medication that is usually used as a diuretic or to help change acidity levels in the blood.Dalfampridinehas also been shown to be effective in episodic ataxia type 2 as well. Physical therapy may be helpful to manage the ataxia when it is present.
While episodic ataxia is not common, a diagnosis has implications for both the patient and their family. It is important forneurologistsand patients to think about episodic ataxia when there is a family history of clumsiness.
Summary
Genetic testing is used to diagnose episodic ataxia. Genetic counseling is available to help families with rare genetic disorders like episodic ataxia. Treatment for episodic ataxia may involve medication and physical therapy.
Talk to a healthcare provider if you are experiencing uncontrollable muscle movements. Your provider will want to rule out more common causes and make sure you’re getting appropriate treatment.
2 Sources
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National Ataxia Foundation.Episodic ataxia.MedlinePlus.Episodic ataxia.
National Ataxia Foundation.Episodic ataxia.
MedlinePlus.Episodic ataxia.
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