Sleep disorders in myotonic dystrophies

Subramony, S. H.; Wymer, James P.; Pinto, Belinda S.; Wang, Eric T.

doi:10.1002/mus.26866

Cited by 24 publications

(16 citation statements)

References 85 publications

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“…However, our patients had obstructive‐dominant sleep apnea and not central apnea, suggesting a higher frequency of obstructive sleep apnea (OSA) among GNE myopathy patients. While some muscular diseases, such as inclusion body myositis 34 and myotonic dystrophy, 35 are associated with sleep apnea, they are often accompanied by pharyngeal weakness and dysphagia. None of our patients had dysphagia or aspiration pneumonia, although some had residue in the vallecula or piriform sinus and repetitive swallowing (unpublished results), which could be indicative of subtle pharyngeal dysfunction.…”

Section: Discussionmentioning

confidence: 99%

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients

et al. 2021

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Introduction:We previously identified UDP-N-acetylglucosamine 2-epimerase (GNE) myopathy patients with sleep apnea and a past history of thrombocytopenia, but without disease-specific cardiac involvement. This study aimed to clarify the occurrence, severity, and serial changes of these complications. Methods: Thirty-three genetically confirmed GNE myopathy patients who participated in a 5-y longitudinal observational history study underwent platelet count and platelet-associated immunoglobulin G (PA-IgG) measurements, a sleep study, and electrocardiography (ECG), Holter ECG, and echocardiogram examinations.Results: Among the 33 patients, three had low platelet counts and 17 out of 26 were PA-IgG positive. No patient exhibited bleeding tendencies, and 3 out of 28 had low platelet counts. Muscle weakness was more pronounced, and summed MMT and grip power significantly lower, in PA-IgG-positive patients than in PA-IgG-negative patients. Of 19 patients, 7, 4, and 3 who underwent a sleep study had mild, moderate, and severe sleep apnea, respectively, and three started continuous positive airway pressure (CPAP). The respiratory disturbance index was not significantly correlated with physical evaluation items or forced vital capacity. All patients underwent ECG, 32 underwent cardiac ultrasound, and 25 underwent Holter ECG. No disease-specific cardiac involvement was noted, no serial changes during the follow-up period were observed for ECG and echocardiography, and none of the patients required therapy for cardiac abnormalities.

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Section: Discussionmentioning

confidence: 99%

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients

et al. 2021

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“…Notably, the DM population has higher incidence of risk factors for the development of atrial arrhythmia, including obstructive sleep apnea and metabolic syndrome [ 49 , 50 ]. As in non-DM patients, it is critical to manage these risk factors to potentially reduce arrhythmia burden.…”

Section: Atrial Arrhythmiasmentioning

confidence: 99%

Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy

McBride¹,

Deshmukh²,

Shore³

et al. 2022

Rev. Cardiovasc. Med.

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Myotonic dystrophy is an autosomal dominant genetic disease of nucleotide expansion resulting in neuromuscular disease with two distinct subtypes. There are significant systemic manifestations of this condition including progressive muscular decline, neurologic abnormalities, and cardiac disease. Given the higher prevalence of cardiac dysfunction compared to the general population, there is significant interest in early diagnosis and prevention of cardiac morbidity and mortality. Cardiac dysfunction has an origin in abnormal and unstable nucleotide repeats in the DMPK and CNBP genes which have downstream effects leading to an increased propensity for arrhythmias and left ventricular systolic dysfunction. Current screening paradigms involve the use of routine screening electrocardiograms, ambulatory electrocardiographic monitors, and cardiac imaging to stratify risk and suggest further invasive evaluation. The most common cardiac abnormality is atrial arrhythmia, however there is significant mortality in this population from high-degree atrioventricular block and ventricular arrhythmia. In this review, we describe the cardiac manifestations of myotonic dystrophy with an emphasis on arrhythmia which is the second most common cause of death in this population after respiratory failure.

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“…On a similar theme, pitolisant, a stimulant drug that antagonizes histamine H3 receptors to treat excessive daytime sleepiness in patients with narcolepsy, will be evaluated by Harmony Biosciences to treat the same symptom in DM1. This is a clinical hallmark in most patients and one of the most frequent non-muscular symptoms contributing to a reduced quality of life [33] . A repurposing program with a Phase II clinical trial in adult patients with DM1 was announced for the first half of 2021.…”

Section: Drug Development Programsmentioning

confidence: 99%

Myotonic dystrophy type 1 drug development: A pipeline toward the market

Pascual-Gilabert¹,

López-Castel

Artero

2021

Drug Discovery Today

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Highlights Myotonic dystrophy, a neuromuscular disease, affects at least around half a million people worldwide. Close to two dozen preclinical and clinical drug development programs active. Drugs encompass new chemical entities, repurposing, oligonucleotide, and gene therapy. Tideglusib, mexiletine, and metformin are close to reaching marketing authorization.

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Sleep disorders in myotonic dystrophies

Cited by 24 publications

References 85 publications

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients

Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy

Myotonic dystrophy type 1 drug development: A pipeline toward the market

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