title: [Megacolon in a case of Steinert's myotonic dystrophy].
abstract: A case of Dystrophia Myotonica with a positive family history, cataract and myotonic bursts on EMG is reported. The patient underwent repeated respiratory infections, which were associated with an abnormal elevation of the diaphragm and with an enlargement of the colon. The frequency of pulmonary infections, which may arise many years before the appearance of neurological symptoms, is stressed. On the other hand enlargement of the colon is a rare finding. Its pathogenesis as well as therapeutic implications are discussed.
mesh_terms: D001415:Back; D001996:Bronchopneumonia / Q000150:complications; D004576:Electromyography; D006391:Hemangioma / Q000150:complications; D006801:Humans; D008297:Male; D008531:Megacolon / Q000209:etiology*; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications* / Q000175:diagnosis
vernacular_title: Megacolon in un caso di distrofia miotonica di Steinert.