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Title: Episodic ataxia type 1
Authors: D'Adamo, Maria Cristina
Hanna, Michael G.
Di Giovanni, Giuseppe
Pessia, Mauro
Keywords: Spinocerebellar ataxia type 1
Issue Date: 2012
Publisher: University of Washington
Citation: D'Adamo, M. C., Hanna, M. G., Di Giovanni, G., & Pessia, M. (2012). Episodic ataxia type 1. In M. P. Adam, H. H. Ardinger, R. A. Pagon, et al., GeneReviews: Medical Genetics Information Resource [database online]. Seattle: University of Washington.
Abstract: Clinical characteristics: Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other findings can include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence. Diagnosis/testing: Diagnosis is based on clinical findings, an electrophysiologic test of axonal superexcitability and threshold electrotonus, and/or molecular genetic testing of KCNA1, the only gene in which pathogenic variants are known to cause EA1. Management: Treatment of manifestations: Acetazolamide (ACTZ), a carbonic-anhydrase (CA) inhibitor, may reduce the frequency and severity of the attacks in some but not all affected individuals. Antiepileptic drugs (AEDs) may significantly reduce the frequency of the attacks in some individuals.
ISSN: 23720697
Appears in Collections:Scholarly Works - FacM&SPB

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