Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

Abstract

Introduction: Lower urinary tract symptoms (LUTS) and gastrointestinal (GI) problems are common in Duchenne muscular dystrophy (DMD), but not systematically assessed in regular care. We aimed to determine the prevalence of bladder and bowel dysfunction (BBD) in DMD patients compared with healthy controls (HC). Methods: The Childhood Bladder and Bowel Dysfunction Questionnaire (CBBDQ) based on the International Rome III criteria and the International Children’s Continence Society was filled out by 57 DMD patients and 56 HC. Additionally, possible associations of BBD with, for example, medication use or quality of life were evaluated in an additional questionnaire developed by experts. Results: In 74% of patients versus 56% of HC ≥1 LUTS (n.s.) were reported, 68% of patients versus 39% of HC reported ≥1 bowel symptom (p = 0.002) and 53% of patients versus 30% of HC reported combined LUTS and bowel symptoms (p = 0.019). A negative impact of BBD on daily life functioning was reported by 42% of patients. Conclusions: These data underscore that standard screening for BBD is needed and that the CBBDQ could be of added value to optimize DMD care.

Spontaneous transverse colon volvulus in a patient with Duchenne muscular dystrophy: An unreported complication

“…In addition, most patients experience gastrointestinal and, to a lesser extent, urinary symptoms (ie, urinary incontinence, hesitancy, straining, weak stream, intermittency nephrolithiasis, and renal insufficiency) already from a young age. Dysphagia (due to swallowing impairment), gastroesophageal reflux, collection of gastric air, chronic constipation (in up to 46,7% of patients) and diarrhea (with possible alternating pattern), blood in stool and fecal incontinence may occur [7] , [8] , [9] , as well as life-threatening complications like acute gastric dilatation, gastroparesis, and intestinal pseudo-obstruction, the latter with dilated and fluid-filled small intestine and colon and possible acute respiratory failure. For this reason, young adults with DMD and a history of abdominal bloating should be routinely investigated with abdominal radiography [10] .…”

“…It is associated with mutations in the gene coding for dystrophin protein and leads to progressive muscular weakness and disability from a very young age [1] , [2] , [3] , followed by a severe cardio-respiratory failure between the second and the third decade [4] , [5] , [6] . Other minor symptoms involve the urinary and, most importantly, the gastrointestinal tract, including motility disorders (gastric distension, chronic constipation, and diarrhea) as well as life-threatening conditions like intestinal pseudo-obstruction and volvulus, with reported sigmoid localization [6] , [7] , [8] , [9] , [10] .…”

Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact

“…This study arose from feedback to the FSHD society, with people reporting that symptoms involving swallowing, bowel, and urinary function were distressing and were not recognized by healthcare providers. Similar symptoms have been described in other forms of muscular dystrophy, leading to decreased quality of life (QOL) 9–14 . The prevalence and nature of GI and GU symptoms remain unknown in FSHD, possibly resulting in gaps in care.…”

“…Similar symptoms have been described in other forms of muscular dystrophy, leading to decreased quality of life (QOL). [9][10][11][12][13][14] The prevalence and nature of GI and GU symptoms remain unknown in FSHD, possibly resulting in gaps in care. We conducted a survey to compare the frequency with which symptoms related to the GI or GU systems are reported by adults with FSHD compared to healthy household controls.…”

How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?

“…Besides chronic skeletal muscle wasting [ 23 , 24 ] and impaired neuromuscular transmission [ 293 ], Duchenne patients suffer from multi-system dysfunction [ 29 , 30 , 31 ] involving a variety of tissue and organ systems [ 32 , 33 , 34 ]. These body-wide abnormalities include cardiomyopathy [ 294 , 295 , 296 ], respiratory failure [ 297 , 298 , 299 , 300 ], liver atrophy [ 301 , 302 ], renal failure [ 303 , 304 , 305 , 306 ], bladder dysfunction [ 307 , 308 , 309 , 310 ] and gastrointestinal complications [ 311 , 312 , 313 ], as well as bone fragility [ 314 ] and scoliosis [ 315 , 316 , 317 ]. A subset of Duchenne patients suffers from neurological deficiencies that manifest themselves as neurodevelopmental delays, emotional disturbances, mental retardation and behavioral problems [ 318 , 319 , 320 , 321 , 322 ].…”