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Abstract

Journal of Neurosciences in Rural Practice. 2021 Jan; 12(1): 210-2.
doi  10.1055/s-0040-1721543
PMID 33531786

Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association.

Radhakrishnan, Divya M. Shree, Ritu Madhaw, Govind Manchanda, Rajat Mahadevan, Anita Kumar, Niraj

Abstract


The association of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, also known as SMA plus, is a unique syndrome linked to non-survival motor neuron (non-SMN) genes. The disease starts in childhood with progressive weakness and atrophy of muscles; myoclonic epilepsy develops during later childhood, after the onset of motor symptoms. In this report, we describe a case of SMN gene unrelated SMA and myoclonic epilepsy, supported by electrophysiological and neuropathological evidences.

Copyright

Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-Non Derivative-Non Commercial License, permitting copying and reproduction so long as the original work is given appropriate credit.

Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.

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