Oculopharyngeal muscular dystrophy as a rare cause of dysphagia (EN)

Hauburger, Anja

Schrank, Bertold

Eckardt, Alexander J

Werling, Sarah

Müller, Michaela

Deschauer, Marcus

Oculopharyngeal 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 (EN)

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Ελληνική Γαστροεντερολογική Εταιρία

Annals of Gastroenterology

Case Report

Αγγλική γλώσσα

2015-03-27

http://www.annalsgastro.gr/index.php/annalsgastro/article/view/1787

Hellenic Society of Gastroenterology (EN)

1792-7463

1108-7471

Annals of Gastroenterology; Volume 28, No 2 (2015); 291 (EN)