Histopathologic Changes of the Esophagus in Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is characterized by progressive systemic muscle wasting, leading to respiratory paralysis and early death. This X-linked disease is caused by DMD mutations, encoding dystrophin. 1 There is little information regarding gastrointestinal abnormalities in patients with DMD. However, since the esophageal wall includes smooth and skeletal muscle it is also vulnerable to suffering the effects of muscle wasting in patients with DMD. After finding dyskeratosis and parakeratosis restricted to the proximal and middle esophagus with distal sparing in an 18-year-old patient with DMD, we performed an archive search of a large academic hospital and identified four additional patients with DMD who had also undergone esophageal biopsy. The patients consisted of five boys, ranging from 7 to 19 years of age. Esophageal injury was present in two patients, consisting of mild esophagitis in one, and spongiosis with dyskeratosis and parakeratosis in another. These patients were both older and had been diagnosed with DMD for greater than 15 years, while the three patients with histologically normal biopsies were younger and been diagnosed with DMD for 7, 9, and 13 years, respectively. Although the data is limited and the changes are subtle, they can be explained by the underlying muscular dystrophy pathophysiology.

Motor dysfunction of the gut in Duchenne muscular dystrophy: A review

“…These injuries consisted of mild esophagitis and spongiosis with dyskeratosis and parakeratosis. No such alterations were observed in patients with a more recent diagnosis of DMD 49 . Clinicians have limited access to guidelines about the management in DMD patients of dysphagia 48 that is mainly assessed by patient‐reported questionnaires such as the Sydney Swallowing Questionnaire (SSQ) 50 (Table 1) and confirmed by a videofluoroscopic swallow study (VFSS), a manometry and a fiberoptic evaluation of swallowing (FEES) 48,51 .…”