Episodic ataxia type 1
Alerts and Notices
Synopsis
Attacks may be triggered by sudden movement, exercise, excitement, illness, or fatigue, and may be preceded by sensory auras. Episodes typically last seconds to minutes and may occur fewer than once daily to several times daily. Patients are largely normal between attacks, although myokymia may be present between attacks. Age of onset is typically in childhood or adolescence. In some cases, attacks lessen in adulthood. About 20% of individuals with this disorder will develop progressive cerebellar symptoms. Some individuals will also have cognitive dysfunction, muscle hypertrophy, shortened Achilles tendons, seizures, or scoliosis.
Codes
ICD10CM:G11.9 – Hereditary ataxia, unspecified
SNOMEDCT:
421182009 – Episodic Ataxia Type 1
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Episodic ataxia type 2 or types 3-7
- Spinocerebellar ataxia
- Transient ischemic attack / stroke
- Seizure
- Atypical migraine (eg, basilar migraine)
- Labyrinthine disorders
- Multiple sclerosis
- Friedreich ataxia
- Ataxia-telangiectasia syndrome
- Multiple system atrophy
- Wilson disease
- Cerebellar tumor
- Cerebellitis
- Paraneoplastic syndrome
- Mitochondrial disease
- Urea cycle disorders (eg, orinthine transcarbamylase [OTC] deficiency)
- Aminoacidurias (eg, Hartnup disease)
- Vitamin E deficiency
- Alcohol intoxication (see alcohol use disorder)
- Traumatic brain injury
- Functional neurologic disorder
Best Tests
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Management Pearls
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Therapy
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References
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Last Reviewed:04/14/2019
Last Updated:01/16/2022
Last Updated:01/16/2022