1. Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
- Author
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Niraj Kumar, Rajat Manchanda, Govind Madhaw, Divya M. Radhakrishnan, Ritu Shree, and Anita Mahadevan
- Subjects
sma plus ,Pathology ,medicine.medical_specialty ,Weakness ,Case Report ,Progressive myoclonus epilepsy ,Disease ,lcsh:RC321-571 ,030218 nuclear medicine & medical imaging ,progressive myoclonic epilepsy ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,medicine ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,spinal muscular atrophy ,business.industry ,General Neuroscience ,Spinal muscular atrophy ,Motor neuron ,medicine.disease ,SMA ,medicine.anatomical_structure ,sma-pme ,Myoclonic epilepsy ,pme ,Neurology (clinical) ,sma ,medicine.symptom ,business ,030217 neurology & neurosurgery - 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.
- Published
- 2021
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