Prevalence and bother of patient-reported lower urinary tract symptoms in the muscular dystrophies

Abstract

Introduction: Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are characterized by progressive muscle weakness and eventual loss of ambulation, and result from mutations in the dystrophin gene. Dystrophin is essential for skeletal muscle functioning but its role in smooth muscle function is not as well established. In a retrospective review, our group previously demonstrated that roughly half of these patients have at least one documented urologic diagnosis, most commonly being lower urinary tract symptoms (LUTS) and nephrolithiasis. To better understand the frequency of LUTS and the degree to which they impact quality of life in this patient population, we performed a cross-sectional evaluation.

Methods and materials: Following IRB approval, a survey modified from multiple validated surveys was distributed to DMD and BMD patients. The survey contained questions derived from multiple validated questionnaires, including the American Urological Association Symptom Score and the Dysfunctional Voiding Symptoms Score, which assessed both the frequency of lower urinary tract symptoms (i.e. urinary urgency, frequency, enuresis, dysuria, and bowel function) as well as how bothersome patients found these symptoms.

Results: Of the 56 respondents (mean age 15.3; range 4-33), 40 (71.4%) reported at least one LUTS, most commonly urgency (n = 31, 55%) and hesitancy of stream (n = 32, 57%) (Figure). Although the majority of the patients reported being happy with their symptoms, 16% (n = 9) expressed dissatisfaction. We did not find any correlation between LUTS and disease progression, as measured by years non-ambulatory, on chi-square analysis.

Conclusions: In this cross-sectional study of the frequency and degree of bother of LUTS in D/BMD patients, we found that a high percentage experience LUTS. Despite this high prevalence, the majority report that they are not especially bothered by these symptoms; however, over 16% express dissatisfaction with their current LUTS. With this patient population now living longer, this may become even more prevalent. Screening for bothersome LUTS in patients with DMD and BMD should be a part of disease management, with appropriate treatment or referral to a urologist for those bothered by their symptoms to positively impact their quality of life.

Keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; Quality of life; Urinary urge incontinence.