Prevalence of smooth muscle dysfunction among children with Duchenne muscular dystrophy

Abstract

Smooth muscle dysfunction in Duchenne muscular dystrophy (DMD) has been rarely studied. A cross-sectional study was conducted to estimate the prevalence of smooth muscle dysfunction (vascular, upper gastrointestinal, and bladder smooth muscle) in children with DMD using questionnaires (Pediatric Bleeding Questionnaire, Pediatric Gastroesophageal Symptom Questionnaire, and Dysfunctional Voiding Symptom Score). Investigations included bleeding time estimation, nuclear scintigraphy for gastroesophageal reflux, and uroflowmetry for urodynamic abnormalities. Ninety-nine subjects were included in the study. The prevalence of vascular, upper gastrointestinal, and bladder smooth muscle dysfunction was 27.2%. Mean bleeding time was prolonged by 117.5 seconds. The prevalence of gastroesophageal reflux was 21%. Voided volume/estimated bladder capacity over 15% and abnormal flow curves on uroflowmetry were seen in 18.2% and 9.7% of the subjects, respectively. Our study highlights the need for addressing issues related to smooth muscle dysfunction in the routine clinical care of patients with DMD.

Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021

“…Gastro–oesophageal reflux requiring treatment was rarely reported but almost half the study group complained of constipation. In a study of the prevalence of smooth muscle dysfunction in children with DMD, Manokaran et al (2020) found that 21% had gastro-oesophageal reflux [ 59 ].…”

Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy

“…The DMD pig model of muscular dystrophy also exhibits abnormal digestion and absorption capacity in the gastrointestinal tract [384]. The associated patterns of malnutrition are in agreement with gastrointestinal dysfunction in the dystrophic phenotype [26,177,186,200].…”

“…In the second decade of life, cardiomyopathy and respiratory failure requires ventilatory assistance and intervention with cardiac drug treatment [ 161 , 216 ]. Duchenne patients also exhibit an increased susceptibility for fatty liver disease, gastrointestinal complications, renal failure, and bladder dysfunction [ 26 , 200 , 357 ]. Steady advances in cardiopulmonary care and pharmacological therapy have preserved quality of life and improved prognosis for survival of Duchenne patients in recent years.…”

“…With advancing age, the prevalence of urological manifestations increases in Duchenne patients [ 11 , 172 ]. However, relatively little is known about the pathophysiological mechanisms of bladder smooth muscle dysfunction and urinary incontinence and their full clinical extend in patients afflicted with dystrophinopathy [ 200 , 222 ]. In contrast, a variety of studies have characterised renal dysfunction in X-linked muscular dystrophy.…”

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 ].…”