Epidemiology and Genetics of Spinal Muscular Atrophy

Consensus guidelines recommend that genetic counseling be included among multidisciplinary services offered to parents who have children diagnosed with, or suspected of having, SMA.

The reliability and diminishing cost of genetic testing makes widespread genetic screening for SMA technically feasible and cost-effective. The SMA genetic screening is a test for a homozygous deletion in exon 7 of the gene SMN1, the most common genetic finding associated with any form of SMA.

Given the role that microRNAs (miRNAs) play in gene expression, it is perhaps not surprising that they are implicated in this hereditary disease. The potential ways that miRNAs are involved in the pathogenesis of SMA are just beginning to be identified.

MUNIX is a noninvasive, electrophysiological method that identifies the loss of motor neurons, which are the cells that are primarily affected in SMA. The tool, which has shown both reliability and validity, works through a combination of neurography and surface electromyography.