[Pharyngo-esophageal motility disorders in Steinert's myotonic dystrophy. Description of a case presenting with dysphagia].
In Myotonic Dystrophy symptoms of gastrointestinal dysfunction may dominate the clinical picture or they may be manifested long before the musculoskeletal disturbances become apparent. A case of Myotonic Dystrophy in a 26-year-old woman with dysphagia as the symptom of clinical presentation is reported. Manometric investigations demonstrated motor dysfunctions in pharynx and in proximal, middle and distal portions of the esophageal body, indicating both striated and smooth muscle involvement. The pathophysiology of the esophageal motility disorders in Myotonic Dystrophy and the related therapeutic problems are briefly discussed.
Linoli
G
G
Unità Operativa di Neurologia, Ospedale di S. Maria sopra i Ponti (USL 23), Arezzo.
Ceccatelli
P
P
Malentacchi
G M
GM
D000328:Adult; D001706:Biopsy; D003680:Deglutition Disorders / Q000175:diagnosis / Q000209:etiology / Q000473:pathology; D015154:Esophageal Motility Disorders / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D004947:Esophagus / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008365:Manometry; D009130:Muscle, Smooth / Q000473:pathology; D009223:Myotonic Dystrophy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010608:Pharyngeal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology
Disordini della motilità faringo-esofagea nella distrofia miotonica di Steinert. Descrizione di un caso esordito con disfagia.