Spinal Muscular Atrophy (SMA)

The Ohio State University Wexner Medical Center in Columbus, Ohio, has been at the forefront of research and clinical innovations for spinal muscular atrophy (SMA) for decades.

Advances in identifying genes responsible for diseases like SMA and developing gene therapies to treat them have been a focus of our neurologists and researchers who’ve made it their life’s mission to care for families dealing with debilitating neuromuscular disorders.

If you’re an adult who’s been diagnosed with SMA or there’s a possibility you might have it, our experts will help navigate every aspect of your treatment within our multidisciplinary Spinal Muscular Atrophy Clinic, which provides comprehensive, collaborative care all in one place. We serve one of the largest populations of adults with SMA in the country and are internationally recognized as a leader in SMA care and research.

What is spinal muscular atrophy?

Spinal muscular atrophy is a disease that affects your motor neurons, which are nerve cells that control muscle movement. It’s genetic, meaning it’s inherited, and causes your muscles to become weak, or atrophied. While the condition mainly affects infants and children, adults can develop it, too. We’ve partnered with Nationwide Children’s Hospital in many of our efforts to improve the lives of those with SMA.

The symptoms and prognosis of people diagnosed with SMA vary based on when someone develops it and the severity of the disease. The disease is typically characterized by the progressive loss of muscle control, strength and movement, including walking and sitting.

How common is SMA?

Spinal muscular atrophy occurs in one in 11,000 people, most of them infants and children. Prior to development of disease modifying therapies, SMA was considered a fatal genetic disease in infants. The implementation of standard of care and the current therapies have improved survival, respiratory and motor function. The earlier in life the treatment is started the better the response.

Most now live into adulthood. Also, a small number of people have a milder variation of the disease that is adult onset.

Cause of spinal muscular atrophy in adults

SMA is a genetic condition, meaning it’s inherited from your parents. SMA is caused by a deficiency in the amount of SMN proteins, which keep the motor neurons functioning properly. As the result of the loss of the SMN protein, the motor neurons shrivel up and die, affecting a person’s ability to move.

The SMN protein deficiency occurs because individuals with SMA are missing part of their SMN1 gene or the gene has mutated.

SMA symptoms in adults

Adults with SMA have several symptoms that can have a significant effect on someone’s quality of life. Symptoms can include:

• Weakened muscles
• Respiratory problems
• Difficulty swallowing foods
• Involuntary twitches
• Contractions
• Fatigue

How is spinal muscular atrophy diagnosed?

Since SMA has similar symptoms to other neuromuscular disorders, like muscular dystrophy, we’ll use diagnostic tools to rule out other conditions and determine if you have spinal muscle atrophy. Those include:

• Genetic tests – We can look at the blood to identify problems with the SMN1 gene. This captures 95% of people with SMA. There is a small group of people who have other forms of SMA related to mutations in other genes.
• Blood tests – As your muscle deteriorates, it releases proteins and enzymes into the blood, which can show up in blood tests.
• Electromyogram (EMG) – This test measures the electrical activity of muscles and nerves.
• Muscle biopsy – A small piece of tissue can be extracted from the muscle and examined under a microscope for signs of muscle atrophy.

SMA treatment options

SMA doesn’t have a cure, but we have several therapies that can help slow the progression of the disease or help manage symptoms. To treat the disease, there are two main options available:

• Medications – Several medications have been approved by the U.S. Food and Drug Administration that slow the deterioration of motor neurons and, in some case, even improve symptoms. These disease-modifying medications include nusinersen (Spinraza) and risdiplam (Evrysdi).
• Gene therapy – In children under age 2 with SMA type 1 (infantile-onset), a gene therapy called onasemnogene abeparvovec-xioi (Zolgensma) has been approved by the FDA and shown to prolong and improve the lives of children with this devastating disease.

Many people also benefit from additional therapies to help manage their symptoms, including physical and occupational therapy as well as assistive devices, like braces or wheelchairs.

Why choose Ohio State for SMA treatment?

Along with its partnership with Nationwide Children’s, the Ohio State Wexner Medical Center has been on the forefront of working to find cures for this devastating disease. We’re also one of only a few adult-only Cure SMA Care Center Network Sites in the United States.

Other key highlights of our SMA program include:

• Unparalleled expertise – Our health care providers — including physicians, advanced practice providers and nurses as well as speech, occupational and physical therapists — have specialized training and experience in caring for and treating people, especially adults, with spinal muscle atrophy.
• Leading-edge research and clinical trials – Through our world-class neuromuscular disease research center, you’ll have access to groundbreaking research and clinical trials not available in many other places. We have multiple SMA-specific clinical trials happening at any given time
• Collaborative care – We offer the Spinal Muscular Atrophy Clinic to provide comprehensive care involving multiple disciplines in a convenient manner.
• Access to myriad resources – For example, our Assistive Technology Center provides you with wheelchairs, electronic devices and other aids to help you manage your disease and everyday living.