Urinary incontinence in men with Duchenne and Becker muscular dystrophy

Morse, Christopher I.; Higham, Katie; Bostock, Emma L.; Jacques, Matthew

doi:10.1371/journal.pone.0233527

Cited by 14 publications

(11 citation statements)

References 29 publications

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“…As a result of the introduction of ventilation assistance in DMD care, survival has increased significantly during the last decades [ 3 ]. Nevertheless, these young adults with DMD often display secondary somatic symptoms, including (LUTS) lower urinary tract symptoms (i.e., urinary incontinence [ 4 ]) and gastrointestinal complaints (i.e., constipation [ 5 ]) already from a young age. These comorbidities are insufficiently investigated.…”

Section: Introductionmentioning

confidence: 99%

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

Lionarons

Groot

Fock

et al. 2021

Life

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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.

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Section: Introductionmentioning

confidence: 99%

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

Lionarons

Groot

Fock

et al. 2021

Life

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“…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] .…”

Section: Discussionmentioning

confidence: 99%

“…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] .…”

Section: Introductionmentioning

confidence: 99%

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

Pitrone

Cattafi

Magnani

et al. 2023

Radiology Case Reports

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“…VCP patients may experience urinary or anal incontinence/dysfunction as reported in isolated cases [26,68], however is underrecognized. In other neuromuscular disorders, urinary and anal dysfunction are present and can significantly lower the quality of life for patients [74][75][76]. Screening for these symptoms during annual examinations through patient survey or interview may be appropriate and help to discern the etiology of the incontinence.…”

Section: Urinary and Anal Incontinencementioning

confidence: 99%

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

Korb

Peck²,

Alfano

et al. 2022

Orphanet J Rare Dis

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Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget’s disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group’s conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally.

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Urinary incontinence in men with Duchenne and Becker muscular dystrophy

Cited by 14 publications

References 29 publications

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

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

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

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

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