Sleep Problems Plague Muscular Dystrophy Patients but Half Never Get Tested

Sleep is supposed to be the body’s repair window, but for many people living with muscular dystrophy, the night is when their disease does some of its worst damage. Weakened respiratory muscles, abnormal brain signaling, and disrupted sleep architecture can combine to turn every evening into a physiological struggle. Now a new systematic review has pulled together nearly a hundred studies to answer a deceptively simple question: how often are people with muscular dystrophy actually evaluated for sleep problems, how often do those problems occur, and how often are they treated? The answer, published in the Journal of Clinical Sleep Medicine, is a sobering portrait of a gap between what clinical guidelines recommend and what patients actually receive.

The review, led by Nedra Whitehead of RTI International with colleagues from the US Centers for Disease Control and Prevention and several academic centers, combed through PubMed and EBSCO databases in a search last updated in March 2023. The team applied strict inclusion criteria: studies had to involve at least ten participants with one of the major muscular dystrophy subtypes, including Duchenne and Becker muscular dystrophy, congenital muscular dystrophy, facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, or myotonic dystrophy. Only original research or prior systematic reviews published in English qualified. After screening, 95 studies made the cut, encompassing a total of 7,964 participants across seven studies of sleep evaluations, 94 studies of sleep disorders, and 13 studies of treatments.

The distribution of that literature is itself revealing. Myotonic dystrophy dominated the evidence base, with 61 studies, while Duchenne and Becker muscular dystrophy accounted for 20. Facioscapohumeral dystrophy drew nine studies, but congenital and limb-girdle muscular dystrophies were represented by a single study each, and three studies covered multiple dystrophy types. This uneven landscape means that clinicians treating rarer subtypes have had to extrapolate from conditions with very different mechanisms, a practice the new synthesis makes visible for the first time at this scale.

Perhaps the most striking finding concerns evaluation rates. Among people with Duchenne or Becker muscular dystrophy, only about half, 51 percent according to two studies covering 85 individuals, had ever undergone a sleep study. For myotonic dystrophy type 1, the figure was similarly incomplete: 65 percent across two studies of 327 individuals. These numbers matter because professional guidelines for both conditions explicitly recommend routine sleep assessment. In other words, even in the two dystrophies where the evidence and the recommendations are strongest, roughly half of affected individuals are navigating a disease known to compromise breathing during sleep without the objective testing that could detect it.

The reasons for the shortfall are likely multifactorial. Sleep-disordered breathing in neuromuscular disease often develops insidiously, and its symptoms, fragmented sleep, morning headaches, fatigue, can be mistaken for the general burden of living with a progressive muscle disorder. Diagnostic polysomnography requires overnight laboratory capacity, which is unevenly distributed, and patients with mobility limitations may face practical barriers to accessing sleep centers. The review’s authors assessed risk of bias by examining whether studies recruited participants in ways that selected for or against sleep symptoms, and they calculated weighted averages using only the lower-risk studies, a methodological discipline that strengthens confidence in the headline figures.

When it comes to the disorders themselves, the review documented a heavy burden. Excessive daytime sleepiness, measured by questionnaire, affected 39 percent of adults with myotonic dystrophy type 2 and 65 percent of adults with any myotonic dystrophy, compared with just 9 percent among controls. Other muscular dystrophy subtypes showed rates of 6 to 13 percent, meaning that pathological daytime sleepiness appears to be a distinctive signature of myotonic dystrophy rather than a generic consequence of muscle disease. That distinction has biological plausibility: myotonic dystrophy affects the central nervous system directly, and prior research has implicated altered hypocretin signaling, brain atrophy, and disrupted REM sleep architecture in the condition’s sleep pathology.

Sleep apnea, meanwhile, proved common across nearly the entire dystrophy spectrum. Reported frequencies ranged from 11 percent in a single limb-girdle dystrophy study to 65 percent in a single congenital muscular dystrophy study, with the review’s highlights noting a prevalence band of roughly 30 to 65 percent for congenital, Duchenne/Becker, facioscapulohumeral, and myotonic dystrophies. In Duchenne muscular dystrophy, the mechanism is relatively well understood: progressive weakness of the diaphragm and intercostal muscles impairs ventilation, particularly during REM sleep when breathing depends heavily on the diaphragm alone. Nocturnal hypoventilation, oxygen desaturation, and both obstructive and central apneic events follow. In congenital muscular dystrophy, central apnea has been documented for decades, suggesting involvement of brainstem respiratory control in addition to peripheral muscle weakness.

Treatment data painted a picture of underuse. Assisted ventilation, typically non-invasive positive pressure delivered through a mask at night, was reported by only 5 to 16 percent of individuals with myotonic dystrophy, despite the well-documented progression of respiratory insufficiency in that population. The range was wider for other conditions: five to 60 percent of people with myotonic dystrophy and 15 to 69 percent of those with facioscapulohumeral dystrophy used ventilation assistance in the included studies, figures that likely reflect differing disease stages and care settings rather than true population prevalence. For excessive daytime sleepiness, pharmacological options exist, with stimulants such as modafinil tested in randomized trials for myotonic dystrophy-related hypersomnia, yet only 8 percent of individuals with myotonic dystrophy in the review were taking medication for sleepiness.

The clinical stakes of closing these gaps are considerable. Untreated sleep-disordered breathing is associated with worsened quality of life, cognitive impairment, and cardiovascular strain, and in neuromuscular disease it can accelerate respiratory failure, the leading cause of death in several dystrophy subtypes. Non-invasive ventilation, when initiated appropriately, has transformed survival and daily functioning for people with Duchenne muscular dystrophy over recent decades. Identifying sleep apnea and hypoventilation early allows clinicians to time interventions, monitor cardiac arrhythmias that can interact with nocturnal desaturation, and address the daytime sleepiness and fatigue that erode school performance, employment, and independence. The review’s authors conclude that regular sleep evaluations may improve both the identification and treatment of sleep disorders and, by extension, the physical and mental health of people with muscular dystrophy.

What the review cannot yet answer is how to make routine sleep assessment a reality for every patient. The evidence base for congenital and limb-girdle dystrophies is thin enough that dedicated studies are clearly needed, and the heterogeneity of outcome definitions across the 95 included studies complicates precise comparison. Still, the synthesis delivers a clear message to neurologists, pulmonologists, primary care physicians, and families: sleep problems are not a side issue in muscular dystrophy but a central, measurable, and treatable dimension of the disease. With roughly half of the highest-risk patients never having undergone a sleep study, the simplest intervention, asking about sleep and referring for testing, may be among the most consequential steps a care team can take.

Subject of Research: The frequency of sleep evaluations, sleep disorders, and treatments among individuals with muscular dystrophy

Article Title: A systematic review of the frequency of sleep evaluations, sleep disorders, and treatments among individuals with muscular dystrophy

Article References: Whitehead, N., Alese, J. T., Hill, C., Enger, M., Zimmerman, J., Moore, A., Royer, J., Venkatash, S., Thomas, S., Do, B., & Jr Howard, J. F. (2026). A systematic review of the frequency of sleep evaluations, sleep disorders, and treatments among individuals with muscular dystrophy. Journal of Clinical Sleep Medicine, 22(1), Article 173. https://doi.org/10.1007/s44470-025-00041-z

Image Credits: AI Generated

DOI: 10.1007/s44470-025-00041-z

Keywords: muscular dystrophy, sleep disorders, sleep apnea, myotonic dystrophy, Duchenne muscular dystrophy, excessive daytime sleepiness, systematic review, non-invasive ventilation, polysomnography, sleep evaluation, hypersomnia, respiratory insufficiency