Oculopharyngeal muscular dystrophy as a rare cause of dysphagia

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Φορέας Ελληνική Γαστροεντερολογική Εταιρία
Συλλογή Annals of Gastroenterology Oculopharyngeal muscular dystrophy as a
rare cause of dysphagia
Επιμέρους συλλογή Case Report
ΠεριγραφήOculopharyngeal muscular dystrophy (OPMD) is a rare cause for late-onset dysphagia. OPMD normally follows an autosomal dominant inheritance. Herein we describe a rare case of an autosomal recessive inheritance of OPMD. An 80-year-old male presented with progressive dysphagia, frequent aspiration and change of voice getting inarticulate and hoarse. Physical examination showed ptosis of the right eyelid. Endoscopic and manometric investigation revealed a nonspecific motility disorder with hypopharyngeal esophageal hypotension. The severity of dysphagia became apparent when significant aspiration occurred during a barium swallow. Magnetic resonance imaging of the head ruled out a malignant or cerebral ischemic process. Based on the neurological examination, neurogenic muscular dystrophy was suspected and DNA analysis was performed. The analysis confirmed the extremely rare diagnosis of an autosomal recessive inheritance pattern of OPMD with homozygous (GCN)6(GCN)4(GCN) expansion of the poly-(A) binding protein nuclear 1 gene. As OPMD normally follows an autosomal dominant inheritance, consanguinity of the patient’s parents was suspected.Keywords Dysphagia, oculopharyngeal muscular dystrophy, neurogenic muscular dystrophy, ptosisAnn Gastroenterol 2015; 28 (2): 291-293
Δημιουργοί Werling, Sarah German Diagnostic Clinic Eckardt, Alexander J German Diagnostic Clinic Schrank, Bertold Hauburger, Anja Deschauer, Marcus Müller, Michaela German Diagnostic Clinic
ΕκδότηςAnnals of Gastroenterology
Ημερομηνία2015-03-31
Μορφότυποςapplication/pdf
Μορφότυποςtext/html
ΠηγήAnnals of Gastroenterology; Volume 28, No 2 (2015); 291
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