Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association

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 duri...

Descripción completa

Detalles Bibliográficos
Autores principales: Radhakrishnan, Divya M., Shree, Ritu, Madhaw, Govind, Manchanda, Rajat, Mahadevan, Anita, Kumar, Niraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Pvt. Ltd. 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846330/
https://www.ncbi.nlm.nih.gov/pubmed/33531786
http://dx.doi.org/10.1055/s-0040-1721543
Descripción
Sumario: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.

Ejemplares similares