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Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
Divya M Radhakrishnan1,2, Ritu Shree1,3, Govind Madhaw1
1Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
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.
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