More than one-third of people with spinal muscular atrophy (SMA) — 35 percent — are adults. Among adults with SMA, most have SMA type 3 (Kugelberg-Welander syndrome). Type 4, also known as adult-onset SMA, is the mildest type of SMA. Since SMA type 4 is extremely rare, there is little research and information about the condition available.
Even among adults with the more common type 3 SMA, the medical community has a poor understanding about how adults experience the condition. However, in one small study of 25 adults or family members of adults with type 3 SMA in Australia, researchers found that participants commonly had major gaps in health care and a perceived low value for the health care they received. The majority of participants described difficulties around finding and accessing specialists and clinics capable of treating adults with SMA. Those who expressed a low value for their health care reported encountering health care providers who weren’t knowledgeable about SMA. Other adults with SMA who had stable symptoms were not motivated to seek care. For these and other reasons, many participants had disengaged from the health care system.
Read more about Tips for Staying on Spinal Muscular Atrophy Therapies.
For those diagnosed with SMA as children, there may not be an effective program to support the transition to adult care. It can be difficult to find and access a specialist or clinic that offers multidisciplinary care for adults with SMA.
According to nonprofit advocacy group Cure SMA, the recommended standard of care for SMA differs in some ways between adults and children. Adults are more involved in decision-making and more likely to experience medical problems involving multiple body systems. For adults and children with SMA alike, it’s recommended to have a multidisciplinary health care team including a central provider who coordinates medication, acute care, physical therapy, and specialists in neuromuscular, pulmonary, gastrointestinal, and orthopedic care.
Cure SMA offers a Find a Location search in the U.S. with an “adult site” option. Despite the challenges many adults with SMA have experienced in accessing care, it is worth noting that the field of SMA care is rapidly changing as new treatments are approved and others are being researched. As treatments are added, access will likely expand.
As of October 2022, nusinersen (Spinraza) and risdiplam (Evrysdi) are the only medications approved by the U.S. Food and Drug Administration (FDA) for the treatment of spinal muscular atrophy in adults as well as children.
Researchers are beginning to focus on finding effective treatments for adults living with spinal muscular atrophy. There are also a number of clinical trials — recently completed, ongoing, or planned — to study the safety and effectiveness of new treatments in adults with spinal muscular atrophy. In addition to Spinraza, ClinicalTrials.gov lists studies for several other investigative treatments specifically for adults with SMA:
Whether or not an adult with SMA decides to take Spinraza or enroll in a clinical trial for access to a new treatment, engaging with health care can provide many benefits. An adult provider can act as a care coordinator, making referrals and connecting you with specialists as needed.
An adult provider who understands SMA can also help navigate the aging process, screening for diseases that become more common as people get older. For instance, cardiovascular disease is not only the number one cause of death around the world, but frequently a related condition in SMA. As the needs of an adult with SMA change, an adult provider can help coordinate with specialists or admit to nonpediatric hospitals if necessary.
Psychological health is also important — one study found a connection between emotional distress and health-related quality of life in people with SMA. An adult provider can help identify depression, discuss whether antidepressant medication may help, and refer adults with SMA to a mental health provider.
For those with later-onset SMA, finding a knowledgeable and supportive health care provider is an important part of Staying Your Healthiest With SMA.