Girl with intermittent ataxia, myoclonus and poor scholastic perfomance – A case report

Authors : Miny Susan Abraham, Nikhil Gladson, Jiya Thankom Koshy

DOI : 10.18231/j.ijn.2023.044

Volume : 9

Issue : 4

Year : 2023

Page No : 227-230

A numerous number of disorders are being linked with ataxia and myoclonus. Majority of causes are genetic and a growing number of genes are being connected with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques like Next generation Sequencing (NGS). We report a rare case of progressive myoclonus and ataxia, in a young girl who presented with action induced myoclonus, episodic ataxia and cognitive regression.


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