Spinal muscular atrophy (SMA) is a genetic motor neuron disorder with deletions or mutations in SMN1 gene leading to severe progressive weakness by degeneration of lower motor neurons. In December 2016, the first drug to treat SMA, nusinersen, was approved. The CHERISH trial had demonstrated benefit when initiated up to age 12. There is a dearth of information at this time about effects of nusinersen when initiated in adulthood, prompting interest in reporting our experience in treating adults with high degrees of debility.  

We evaluated eight adult SMA patients (23 to 65 years of age), who established care in multidisciplinary Muscular Dystrophy Association Clinic. We evaluated subjective symptoms, physical exam, revised upper limb module (RULM), and dynamic gait index, prior to and after initiation of nusinersen, and at subsequent visits, over the course of months.

We sought to contribute to literature by reporting observations in adults of different ages with a broad distribution of disease severity, demonstrating meaningful improvements in functioning even when treatment was initiated in an elderly patient. Further studies in a larger group of adults would be beneficial to better outline effects on each functional parameter, including pulmonary function.