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

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Case Report

Author Details : Miny Susan Abraham*, Nikhil Gladson, Jiya Thankam Koshy

Volume : 9, Issue : 4, Year : 2023

Article Page : 227-230

https://doi.org/10.18231/j.ijn.2023.044

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Abstract

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.
 

Keywords: Progressive myoclonus ataxia (PMA), Regression, Next generation sequencing (NGS)

How to cite : Abraham M S, Gladson N, Koshy J T , Girl with intermittent ataxia, myoclonus and poor scholastic perfomance – A case report. IP Indian J Neurosci 2023;9(4):227-230

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