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

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.