| Title: |
Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association |
| Authors: |
Divya M. Radhakrishnan; Ritu Shree; Govind Madhaw; Rajat Manchanda; Anita Mahadevan; Niraj Kumar |
| Source: |
Journal of Neurosciences in Rural Practice, Vol 12, Iss 01, Pp 210-212 (2021) |
| Publisher Information: |
Thieme Medical and Scientific Publishers Pvt. Ltd. |
| Publication Year: |
2021 |
| Collection: |
Directory of Open Access Journals: DOAJ Articles |
| Subject Terms: |
sma; pme; sma-pme; sma plus; spinal muscular atrophy; progressive myoclonic epilepsy; Neurosciences. Biological psychiatry. Neuropsychiatry; RC321-571 |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
https://doaj.org/toc/0976-3147; https://doaj.org/toc/0976-3155; https://doaj.org/article/e445664f668b44819f4d744a92c913e1 |
| DOI: |
10.1055/s-0040-1721543 |
| Availability: |
https://doi.org/10.1055/s-0040-1721543; https://doaj.org/article/e445664f668b44819f4d744a92c913e1 |
| Accession Number: |
edsbas.AF50F3CB |
| Database: |
BASE |