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Abstract

April - June 2023 | Vol. 16 | Issue 2 | 03-05
Spinal Muscular Atrophy Beyond the SMN gene: New Learnings for Common Phenotypes
Eshan Dabhade, Ratna Dua Puri
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Address for Correspondence Email: ratnadpuri@gmail.com
 
Abstract
The most common cause of spinal muscular atrophy (SMA) is biallelic deletion of exon 7/8 of the SMN1 gene. However, SMA can also be caused by variants in genes other than SMN1 (non 5q-SMA). We describe a child with motor delay since infancy and progressive muscle weakness of the lower extremity due to non 5q-related spinal muscular atrophy.
 
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