Background Spinal muscular atrophy (SMA) is a rare neuromuscular disorder leading to
early death in the majority of affected individuals without treatment. Recently, targeted …

Understanding patient clinical progression is a key gateway to planning effective clinical
trials and ultimately enabling bringing treatments to patients in need. In a rare disease like …

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by
out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to …

Abstract Introduction/Aims Health communication is central to effective, supportive
amyotrophic lateral sclerosis (ALS) clinical care. Guidance for ALS communication is limited …

Background People with amyotrophic lateral sclerosis (ALS) face disability-and travel-
related barriers to research participation. We investigate the usefulness and acceptability of …

Abstract Introduction/Aims Glucocorticoids (GC) are first‐line therapy for many
neuromuscular diseases. There is a lack of guidelines regarding the prevention and …

Background People with amyotrophic lateral sclerosis (ALS) are at high risk for severe
outcomes from Covid-19 infection. Researchers exploring ALS and Covid-19 have focused …

Background Registries and clinical databases are important tools to systematically record
and collect information about individuals with rare diseases and to monitor disease patterns …

The 260th ENMC workshop on congenital myasthenic syndromes (CMS) was held in
Hoofddorp in March 2022 in a hybrid format. It was attended by clinicians, researchers …

Objective Expert consensus guidelines recommend referral of people with amyotrophic
lateral sclerosis (ALS) to ALS health charities for support. Limited research indicates that …