Abstract

Sclerosis multiplex (SM) as well as spinal muscular atrophy (SMA) negatively impact the patient’s motor abilities including speech, eating and balance. Sensory symptoms such as numbness and paresthesia distinguish SM from SMA. Differentiating between the normal course of SMA and exacerbations of SM is crucial in evaluating the patient’s condition and prescribing adequate treatment. Thorough collection of medical history and additional diagnostical tests are essential. Disease-modifying therapies are available for both conditions. The
introduction of Nusinersen, Onasemnogene abeparvovec and Risdiplam in SMA treatment has drastically changed the prognosis of SMA, posing a challenge to phenotypic classification of the disease. In Europe, there is an increasing trend in neonatal screening for SMA, which is crucial in timely detection of presymptomatic SMA patients and improved disease prognosis. The treatment of SMA is essential in preserving motor function in symptomatic patients, ensuring independent functioning in daily life for as long as possible.