Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice

Abstract

Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease affecting both smooth and striated muscles. It has been suggested that this multisystemic disease also impairs the genitourinary and lower gastrointestinal systems, but information is scattered and no systematic review has been conducted. The objectives of this systematic review were to document (1) symptoms and signs associated with genitourinary and lower gastrointestinal systems in the DM1 population; (2) impacts on quality of life and participation; and (3) efficacy of treatments available to treat those conditions. Among the 75 studies included, 30 articles presented genitourinary outcomes and 67, lower gastrointestinal outcomes. A wide range of symptoms was reported for both systems but most studies were of poor quality, using medical chart reviews without the use of standardized questionnaires. Urinary incontinence, erectile dysfunction, anal incontinence, constipation, diarrhea and abdominal pain were the most described symptoms. Smooth and striated muscle impairment has been documented in small sample size studies. No experimental study evaluated the efficacy of treatments for these conditions. Few descriptive studies described altered quality of life or participation related to these conditions. Further studies should use standardized questionnaires, provide a clear definition of symptoms and investigate treatment options.

Keywords: Gastrointestinal; Genitourinary; Myotonic dystrophy type 1; Neuromuscular diseases; Urinary.