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Apr 16, 2022 · 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.
Jan 30, 2024 · Researchers have identified more than 40 spinocerebellar ataxia genes, and the number continues to grow. Ataxia and cerebellar degeneration are common to all types, and there may be other symptoms. Episodic ataxia (EA). There are eight recognized types of episodic ataxia. The types EA1 and EA2 are the most common.
Mar 28, 2023 · The term ‘episodic ataxia’ originally refers to a small group of rare autosomal dominant inherited disorders [ 1 ]. These are characterized by discrete attacks of cerebellar dysfunction (ataxia) of variable duration and frequency, often accompanied by other ictal and interictal symptoms. The incidence is likely less than 1 per 100,000, but ...
- Anhar Hassan
- 2023
- 10.5334/tohm.747
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.
Episodic Ataxia is considered a rare disease. Physicians may use different terms when diagnosing episodic Ataxia. The symptoms, duration, severity, and triggers of ataxic attacks differ, usually with periods of normal function in between. Episodic Ataxia includes: Episodic Ataxia Type 1 (EA1) often associated with muscle twitching or stiffness
Jan 15, 2019 · Episodic ataxia (EA) is a neurological condition impairing movement. There are at least eight recognized types, which are all genetic but can have different ages of onset and symptoms.
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Jun 15, 2007 · Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the best characterized and account for the majority of identified cases of episodic ataxia. We summarize current knowledge of clinical and genetic diagnosis, genotype ...
