Multi-centre audit of myotonic dystrophy care in UK: is it the time for national recommendations?

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 93; no. 9; p. e2
• Main Authors: Litesh, Mohit, Campbell, Paul R, Mehboob, Sadaf, Vonberg, Frederick, Koh, Woon Senn, Kelly, Phillip, Shanmugarajah, Priya, Viegas, Stuart, Lilleker, James B, Hewamadduma, Channa
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.09.2022; BMJ Publishing Group LTD
• Subjects: ABN Abstracts 2022; United Kingdom > UK
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp-2022-abn2.4

Myotonic Dystrophy Type 1 (DM1) is the most common muscular dystrophy in adults. Structured multi- disciplinary care is required to manage the multi-system involvement, to improve patient safety, and to reduce mortality and morbidity. Previous audits based on the 2018 consensus-based care recommenda- tions have been conducted at individual UK centres. In this study a standardised audit tool was created and deployed to 3 tertiary UK neuroscience centres.In total, data regarding 375 patients (197 (53%) female, mean age 47 years (range 1-84)) with DM1 were analysed. 62% had adult-onset disease. Neurology teams reviewed 64% of patients at least once a year. Key findings included: Cardiology review was performed annually for only 30%; of patients with respiratory needs, only 12% were reviewed six-monthly by specialist teams; Swallowing function was assessed in only 44% of those required; Clinical assessment for cognitive impairment was conducted in 12%.In conclusion, this multi-centre UK audit identifies several significant areas of care that need to be optimised in DM1, even within dedicated neuromuscular clinics. This highlights the need for a national initiative to establish minimum care standards. Such initiative can help drive resource allocation resulting in positive change.