VP.10 The occurrence of bowel symptoms in adults with Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is a genetic, rapidly progressive condition caused by deficiency or lack of functional dystrophin protein expressed in muscles, resulting in instability of muscle membrane. Consequently, chronic muscle damage leads to muscle degeneration, weakness, and atrophy, loss of ambulation by early teens, cardio-respiratory failure and if untreated, death in the late teens or early twenties. Weakness and associated immobility of the abdominal wall musculature occur in the later stages of the disease often causing intestinal hypomotility. Subsequently, with advancing age, individuals with DMD are at risk of developing nutritional problems secondary to gastrointestinal abnormalities such as gastroesophageal reflux, gastroparesis, collection of gastric air, pseudo-obstruction and chronic constipation posing a risk of life-threatening complications. The aim of this project is to investigate the frequency of bowel symptoms in adults with DMD. A bowel symptoms screening tool for adults with DMD was designed specifically to be used with adults with DMD. There are currently around 150 adults with DMD under the care of our service. The Screening Tool has been completed by 21 individuals to date. 81% reported experiencing bowel symptoms with constipation being the most common (75% of the studied cohort). Moreover, 91% expressed using laxatives. Data collection will continue until June/July 2022. The results from this project will help to obtain more in-depth knowledge about the occurrence of bowel symptoms in adults with DMD to learn more about general health in relation to DMD. Moreover, they will support further improvement of Standards of Care for those affected by the condition.