CC BY-NC-ND 4.0 · J Neurosci Rural Pract 2021; 12(01): 210-212
DOI: 10.1055/s-0040-1721543
Case Report

Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association

Divya M. Radhakrishnan
1   Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2   Department of Neurology, All India Institute of Medical Sciences, New Delhi, India
,
Ritu Shree
1   Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
3   Department of Neurology, Post Graduate Institute of Medical Education & Research, Chandigarh, India
,
Govind Madhaw
1   Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
,
Rajat Manchanda
1   Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
,
Anita Mahadevan
4   Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Niraj Kumar
1   Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
› Author Affiliations
Funding None.

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.



Publication History

Publication Date:
29 January 2021 (online)

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