Severe and Progressive Macroglossia in Adult Patients With Duchenne Muscular Dystrophy: A Retrospective Case Series

This is the authors' abstract. We don't add key points for this paper.

Introduction/Aims Duchenne muscular dystrophy (DMD) is increasingly recognized as an adult disease owing to advances in cardiopulmonary care; however, the prevalence and natural history of macroglossia in this later stage remain unclear. We aimed to investigate the prevalence of macroglossia in adults with DMD and to characterize its longitudinal changes, including whether tongue enlargement continues to progress during adulthood. Methods This retrospective study evaluated adults with DMD who were hospitalized at a neuromuscular center between 2011 and 2024 and underwent computed tomography (CT) suitable for assessing tongue size. Macroglossia was defined and graded using an established clinical severity index. Serial CT images and photographs were reviewed to determine longitudinal changes. Results Of the 85 screened patients, 62 met the inclusion criteria (median age 31 years), and macroglossia was identified in 12 (19%), including five (8%) with severe protrusion beyond the lips. Among the 12 patients with macroglossia, seven underwent serial imaging that demonstrated progressive tongue enlargement over several years, often accompanied by reduced CT attenuation consistent with fatty replacement, even after decades of immobility and generalized muscle wasting. A representative 50‐year‐old man with DMD showed marked worsening of macroglossia from early adulthood to late middle age, which ultimately prevented complete mouth closure. Discussion These findings indicate that macroglossia in adults with DMD can be slowly progressive over adulthood rather than a static anomaly. As survival continues to improve with emerging therapies, macroglossia should be recognized as a potentially important complication of adult DMD, warranting greater clinical attention and systematic evaluation.