Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy.

Real-world data have shown mild improvement of overall motor function in adult patients treated with nusinersen, the first approved therapy for 5q-spinal muscular atrophy (SMA). However, knowledge about preferably targeted muscle functions is sparse. The aim of this study was to evaluate strength of distinct muscles and body regions in adult SMA patients in the early course of nusinersen therapy.

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy.

Objective: Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated. The Multidimensional Fatigue Inventory is a widely used instrument that captures five distinct dimensions.

Cognitive Performance of Patients with Adult 5q-Spinal Muscular Atrophy and with Amyotrophic Lateral Sclerosis.

Motor neuron diseases, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), share several clinical similarities while differing substantially in etiology, disease onset and progression. Cognitive dysfunction, a clinically relevant non-motor feature in a substantial proportion of ALS patients, has been less frequently investigated in SMA. In this prospective multicenter cross-sectional study, cognitive function was assessed by the Edinburgh Cognitive (and Behavioural) ALS Screen (ECAS) and a German vocabulary test (Wortschatztest, WST) in 34 adult patients with SMA types 2-4 and in 34 patients with ALS.