Substance use may be associated with non-adherence to non-invasive ventilation in adults with myotonic dystrophy type 1.

Spinal muscular atrophy (SMA) is a rare, progressive, autosomal-recessive disease affecting lower motor neurons. It results from a deficiency of survival motor neuron (SMN) protein due to homozygous deletions or mutations in the gene located on chromosome 5q13.2. SMA is characterized by progressive muscle weakness, atrophy, and, in advanced stages, bulbar and respiratory insufficiency. The disease is classified into five types based on the age of onset and motor milestones achieved, ranging from SMA type 0, which manifests , to SMA type 4, which presents in adulthood with relatively mild symptoms. For adult SMA patients, two disease-modifying therapies are currently approved: nusinersen, an intrathecally administered antisense oligonucleotide, and risdiplam, an orally available small molecule. Both treatments increase SMN protein production by enhancing gene expression. Sleep-related complaints are well-recognized yet often underdiagnosed complications of neuromuscular diseases, significantly contributing to morbidity and mortality. Given that there is a close relationship between sleep quality and quality of life (QoL) in the general population, early identification and management of impaired sleep quality in SMA are crucial. While motor function scales such as the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM) are essential for quantitative assessment of disease severity and progression, other factors such as the ability to perform daily activities, fatigue, endurance, bulbar function, and sleep quality are equally critical for overall patient well-being. A qualitative study by Lemus de et al. emphasized the importance of sleep and rest in evaluating the burden of SMA. To date, only a few studies have examined subjective sleep quality and excessive daytime sleepiness in individuals with SMA. A study in children with SMA type 2 and 3 using the Sleep Disturbance Scale for Children reported abnormal sleep scores in 16.4% of participants, with an additional 16.7% showing impairments in at least one sleep factor, though no correlation with functional scores was found. In contrast, a study in adults with SMA type 3 treated with nusinersen found no significant differences in sleep quality nor excessive daytime sleepiness compared to controls but did identify associations with functional scores. In a study by Crescimanno et al. half of the included adolescent and adult SMA patients were classified as poor sleepers, with sniff nasal inspiratory pressure emerging as the only independent predictor of sleep quality in their cohort of SMA type 2 and 3 patients. Despite the well-established links between sleep quality, QoL, fatigue, and depression, they have not been systematically investigated in adults with SMA to date. Furthermore, no study has yet investigated sleep quality longitudinally in this population.