Spinal muscular atrophy (SMA) is a genetic disorder and a devastating diagnosis for children and their families that can lead to death or a lifetime of severe disability and progressively limited mobility. SMA is an autosomal recessive disorder that affects the motor neurons located in the spinal cord. It causes progressive muscle atrophy and weakness. There are five types of spinal muscular atrophy: Type 0 is the most severe and Type 4 is a milder form. Some of these types are fatal if untreated.
However, there are now disease modifying therapies that can help slow down the progression of SMA and help preserve some of the patient’s functioning, but most of them have only been studied in infants and children. Gene therapy in particular, is only indicated for children younger than 2 years of age.
So what about adults? What about those kids who had a milder form of SMA, didn’t die in infancy, were diagnosed before these medications were available (or went unrecognized and diagnosed later in life), and lived long enough to come to adulthood and slowly experienced muscular decline over their lifetimes? Can we treat those patients with these medications…or is it too late?
Older patients with SMA can be harder to recognize and they present with their own unique challenges. While the data is mainly in children, there’s no reason to think disease modifying agents indicated for people over the age of two years old cannot be of benefit to adults with SMA.
If the patient you are treating is suffering from loss of function over time, we need to worry about the progressive nature of the disease and that it’s likely going to continue to get worse for them: if their walking now, let’s try to keep them from becoming wheelchair dependent a few years from now. For adults, there are two potential treatment options, both have their advantages and disadvantages and come with major lifestyle considerations for the patient. If they are candidates for the medication and have no contraindications for treatment, educate them on the available treatment options and have them make that informed decision themselves with your clinical guidance. If they opt for treatment, we can try to utilize it to preserve what functioning they currently have so they can enjoy the remainder of their life to the extent for which it is possible. Learn more about what these two options are and listen to experts discuss the details of this question and others submitted by your colleagues in Challenges of Treating Adults and Late-Onset SMA, A Case-based Discussion.
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