Performance fatigability in adults with spinal muscular atrophy treated long-term with nusinersen.

Introduction/aims: Persons with spinal muscular atrophy (pwSMA) report progressive muscle weakness but also reduced endurance when performing repetitive tasks in daily life, referred to as "performance fatigability" (PF). Data regarding the effects of the new disease-modifying drugs on PF are scarce. Thus, our main objective was to examine PF in adult ambulatory pwSMA treated long-term with nusinersen.

Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment.

Background: 5q-associated spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons with consecutive weakness and atrophy of the limb, respiratory, and bulbar muscles. While trunk and limb motor function improve or stabilize in adults with SMA under nusinersen and risdiplam treatment, the efficacy on bulbar function in this age group of patients remains uncertain. However, it is important to assess bulbar dysfunction, which frequently occurs in the disease course and is associated with increased morbidity and mortality.

Fungal Gut Microbiome in Myasthenia Gravis: A Sub-Analysis of the MYBIOM Study.

An altered gut microbiota is a possible contributing pathogenic factor in myasthenia gravis (MG), an autoimmune neuromuscular disease. However, the significance of the fungal microbiome is an understudied and neglected part of the intestinal microbiome in MG. We performed a sub-analysis of the MYBIOM study including faecal samples from patients with MG ( = 41), non-inflammatory neurological disorder (NIND, = 18), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP, = 6) and healthy volunteers (n = 12) by sequencing the internal transcribed spacer 2 (ITS2).

Gut bacterial microbiota in patients with myasthenia gravis: results from the MYBIOM study.

Background: Myasthenia gravis (MG) is an autoimmune neuromuscular disease, with gut microbiota considered to be a pathogenetic factor. Previous pilot studies have found differences in the gut microbiota of patients with MG and healthy individuals. To determine whether gut microbiota has a pathogenetic role in MG, we compared the gut microbiota of patients with MG with that of patients with non-inflammatory and inflammatory neurological disorders of the peripheral nervous system (primary endpoint) and healthy volunteers (secondary endpoint).

Minimal clinically important differences in functional motor scores in adults with spinal muscular atrophy.

Background And Purpose: In patients with spinal muscular atrophy (SMA), functional disease scores are frequently used to evaluate the course of the disease and the efficacy of treatment. The aim of the present study was to propose minimal clinically important difference (MCID) values for motor scores in order to estimate the degree of change within a functional score that can be considered clinically meaningful.

Methods: To estimate the MCID, distribution-based approaches were used.