Consensus-based care recommendations for adults with myotonic dystrophy type 1

Abstract

Purpose of reviewMyotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit.Recent findingsThe Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations.SummaryThe resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.

Clinical and genetic characteristics of childhood‐onset myotonic dystrophy

“…In our cohort, the main cardiac findings were conduction delay and valve abnormalities, neither of which was significant enough for intervention. While there were no adverse cardiac events in our cohort, arrhythmias and other significant cardiac abnormalities can develop at a later age that are often asymptomatic initially, making routine screening important in these patients. Additional studies examining the relationship of these seemingly less significant cardiac abnormalities in young patients and the long‐term cardiac consequences would be beneficial.…”

“…Prior recommendations include baseline and serial monitoring of pulmonary function tests, annual or biennial ECG, and referral to a specialist for cardiac care. These are reasonable recommendations for all patients with DM1 …”

“…Pulmonary and cardiac complications are the two leading causes of death in adult patients with DM1 . The risk of developing cardiac disease is 10‐ to 20‐fold higher in patients with DM1 aged 2 to 30 years .…”

Uncovering health and social care needs among myotonic dystrophy patients

“…1,2 DM1 is inherited in an autosomal dominant manner and has a congenital, childhood, juvenile, adult, and late-onset form. 3 Physiotherapy is recommended to maintain muscle function and to prevent contractures. DM1 is a multisystem disease that affects skeletal muscle, brain, heart, eyes, and the endocrine system, which makes follow-up from various medical specialists necessary.…”

“…Neuropsychiatric symptoms and characteristic cognitive profiles, for instance impaired executive function and global cognitive impairment, are considered part of the disease. 3 International research programmes such as OPTIMISTIC have emerged, aiming to improve clinical practice and quality-of-life standards in the DM1 population. 11,12 The complex nature of DM1 results in various levels of disability, and for many, reduced social participation and independence.…”