August is National Spinal Muscular Atrophy Awareness month. Organizations such as Cure SMA coordinate events to promote awareness of spinal muscular atrophy (SMA) in the general public. The shared goal of these organizations is to increase resources for families and individuals affected with SMA by bolstering research and advancing care.
Spinal Muscular Atrophy is a genetic condition that inhibits the control of muscle movement. This is a result of motor neurons (cells specialized to aid in muscle movement) being lost at a faster rate, leading to a progressive loss of function. The muscles most commonly affected are those in the neck, limbs, and face.
In severe cases, the muscles involved in breathing and swallowing can also be influenced. There are many different types of SMA that vary in severity as well as age of onset. Although the genetic cause of SMA has been identified and well studied, genetics still can’t be used to predict what form of SMA an affected individual will exhibit. However, the most common form of SMA, seen in approximately 70% of cases, manifests within the first six months of life and is associated with respiratory issues. Respiratory issues often lead to the need for respiratory support or death by ages 2 to 3.
Many affected families struggle with a fear of the genetic disorder, but an understanding of the condition and an awareness of the resources available to them can help provide a support system.
Because SMA is common in all populations and severe in nature, the American College of Medical Genetics (ACMG) recommends that all couples be offered genetic carrier testing for SMA, regardless of race or ethnicity. Ideally, testing is offered to couples who are planning a pregnancy or who are currently pregnant, with the primary goal of allowing these couples to make informed reproductive decisions.
To learn more about SMA, please visit our disease page and the Cure SMA website.