Swallowing dysfunction in patients with duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common childhood onset muscular dystrophy, with an incidence estimated as 1:3000 live male births. It is an X-linked inherited condition, caused by mutation of the dystrophin gene. Although much of the literature on DMD states that the disease impacts on swallowing function and recommends swallowing assessment as part of their routine examination, the appropriate method of evaluating their swallowing problems had not yet been determined. Recently, we developed an 8-stage Neuromuscular Disease Swallowing Status Scale (NDSSS) and demonstrated its sufficient reliability, validity, and responsiveness in 134 patients with DMD. NDSSS is considered as a useful tool to evaluate swallowing disorders in clinical area, because it is easy to understand and administer by either medical or nonmedical staff. We recommend that their swallowing function should be evaluated periodically and followed upusing the NDSSS, and timely consider more detailed assessment with videofluorography. In this chapter, we reviewed the epidemiology of dysphagia in patients with DMD and the method of evaluating their swallowing problems.