P330: Acetazolamide-responsive episodic ataxia in DHDDS-related congenital disorder of glycosylation

Genetics in Medicine Open 2026 Open access

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Authors: Jai Kumar Rajavoor Muniswamy, Liam Selvido, Elise Van Zele, Karthik Muthusamy
DOI: 10.1016/j.gimo.2026.103824
Cited by: 0

Abstract

Acetazolamide was initiated at 125 mg twice daily, resulting in improved coordination and stability. The dose was titrated to 250 mg twice daily and then maintained at 250 mg once daily to achieve optimal balance between efficacy and tolerability. The patient was counseled to document activity-induced episodes to assess response and determine the minimum effective dose.

Fields of Study & Subjects

Glycogen Storage Diseases and Myoclonus Genetic Neurodegenerative Diseases Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103824–103824
Publication date
1 January 2026
Language
EN