Treatments and therapies for symptoms and clinical manifestations of adult type 1 myotonic dystrophy: A scoping review

Myotonic Dystrophy is the most common adult-onset muscular dystrophy, with a broad, multi-systemic presentation. There is no cure, so quality-of-life improvements rely on treatment of symptoms and clinical manifestations. This review aimed to synthesize primary research evaluating treatments or therapies for symptoms and clinical manifestations of adult type 1 Myotonic Dystrophy and map targets against patient-reported symptom burden. Embase, MEDLINE, Web of Science, CINAHL, CENTRAL, and PsycINFO were searched for relevant studies published to 16th of October 2024. Two independent reviewers screened title and abstract, then full-text records for eligibility and conflicts were settled by group discussion. Study information was extracted, and treatment targets were mapped against patient-reported symptom burden as reported by Hagerman et al. The literature was limited to only 86 studies; 2/3 conducted in cohorts of <30 participants. Main target symptoms were muscle (50 %), respiratory (15.1 %), central nervous system (12.7 %) and cardiac conduction disorders (10.5 %). Most treatments were pharmacotherapies (43 %), followed by physical training (15.1 %), Non-invasive Ventilation (11.5 %), and Cardiac Resynchronization Therapy (10.5 %). The distribution of treatment targets was poorly representative of patient-reported symptoms. Outcome measures, clinical and patient-reported, were varied and utilized without standardization within treatment categories. These findings emphasize the need for evidence-based clinical management targeting patient priorities to produce quality-of-life improvements.