Spinal muscular atrophy (SMA) is the second most common neuromuscular disease in children but also affects adults. There are four types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached at the motor level. Nusinersen (Spinraza®) was the first innovative treatment for SMA to be marketed in Europe and the United States before being followed by Zolgensma® and Evrysdi®. All of these products aim to increase the production of the SMN protein, which is missing in the disease. The treatment is more effective when it is delivered very early, hence the major advantage of screening for the disease in the neonatal period.
Adults with SMA have recently had access to treatment with nusinersen despite the lack of clear evidence of clinical efficacy in this population. In an article published in July 2020, German clinicians report their experience with nusinersen managing 28 adults with SMA, some having lost the use of walking, others not. They were particularly interested in fatigue and how it felt, using a dedicated scale, the Fatigue Severity Scale, which includes nine items, while also taking into account motor performance (by the 6-minute walking test or other functional scores). While fatigue was definitely improved during the first six months after starting treatment, this effect was only temporary.