Genetic evidence implicates respiratory muscle dysfunction in SIDS

Genetic evidence implicates respiratory muscle dysfunction in SIDSThe SIDS-Critical Diaphragm Failure (SIDS-CDF) hypothesis posits that all SIDS risk factors either increase the workload of the diaphragm or reduce its force-generating capacity, and that while SIDS has many contributing factors, it has one cause, namely the failure of the vital respiratory pump.Several SIDS risk factors can impair diaphragm function, but especially noteworthy are the prone sleeping position and non-lethal infections.However, there is also genetic evidence that implicates respiratory muscle dysfunction in SIDS.Functionally disruptive variants of the gene SCN4A that encodes for the NaV1.4 voltage-gated sodium channel in skeletal muscle are overrepresented in SIDS cases and are known to impair normal respiratory function in infants.