title: Oculopharyngeal muscular dystrophy as a rare cause of dysphagia.
abstract: 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.
authors.affiliation: Department of Gastroenterology Deutsche Klinik für Diagnostik, Wiesbaden (Sarah Werling, Alexander J. Eckart, Michaela Müller), Germany.
authors.forename: Sarah
authors.initials: S
authors.lastname: Werling
authors.affiliation: Department of Neurology, Deutsche Klinik für Diagnostik, Wiesbaden (Bertold Schrank), Germany.
authors.forename: Bertold
authors.initials: B
authors.lastname: Schrank
authors.affiliation: Department of Gastroenterology Deutsche Klinik für Diagnostik, Wiesbaden (Sarah Werling, Alexander J. Eckart, Michaela Müller), Germany.
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Eckardt
authors.affiliation: Department of Neurology, Universitätsklinikum Halle (Saale), Halle (Saale) (Anja Hauburger, Marcus Deschauer), Germany.
authors.forename: Anja
authors.initials: A
authors.lastname: Hauburger
authors.affiliation: Department of Neurology, Universitätsklinikum Halle (Saale), Halle (Saale) (Anja Hauburger, Marcus Deschauer), Germany.
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.affiliation: Department of Gastroenterology Deutsche Klinik für Diagnostik, Wiesbaden (Sarah Werling, Alexander J. Eckart, Michaela Müller), Germany.
authors.forename: Michaela
authors.initials: M
authors.lastname: Müller
keywords: Dysphagia; neurogenic muscular dystrophy; oculopharyngeal muscular dystrophy; ptosis
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