What Is Spinal Muscular Atrophy (SMA)?
SMA is an inherited, progressive neuromuscular disease
SMA is a disease of
the central nervous
SMA is known as a neuromuscular disease because it originates in the central nervous system (CNS) and affects the motor neurons that power the muscles in the body. Due to the degenerative nature of the disease, people with SMA will experience a decline in muscle strength over time, although the rate and severity can vary among individuals.
SMA is a genetic disease.
SMA is an autosomal recessive genetic disease. This means that someone is at risk of developing SMA if they inherit two mutated or deleted SMN1 genes—one from each parent. “Carriers” will only inherit one faulty gene that they can still pass on to their children, though they may never display any SMA symptoms themselves. About 1 in every 50 Americans is a genetic carrier of SMA and most are unaware until their child shows symptoms. The most accurate way to diagnose SMA or carrier status is through genetic testing.
SMA is identifiable.
Genetic testing is an important first step in accurately diagnosing rare diseases like SMA. In cases where a family history of SMA exists or individuals present with symptoms of SMA, genetic testing can help to confirm the diagnosis by looking at genetic material to determine if the SMN1 gene is missing or damaged. For family members of those with SMA, it can tell if someone is a carrier of SMA, which means that the person does not have symptoms of the disease, but can pass it on to their children. Some states also have newborn screening for SMA to help identify and plan for treatment before symptoms even develop. Above and beyond this, genetic testing is often required to initiate SMA treatment.
SMA is progressive but treatment options exist.
Due to the variability of symptoms and timing of disease progression in SMA, it is important to always consult with a physician to determine the best SMA treatment approach for each individual.
After diagnosis, people with SMA can count on a host of helpful resources to assist in setting up a comprehensive treatment plan. Aside from regular visits to a primary care physician, people with SMA may also benefit from multidisciplinary care from pulmonologists, neurologists, orthopedists, physical therapists, and occupational therapists.