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Siblings with recessive oculopharyngeal muscular dystrophy

Hebbar, Srisha, Webberley, Michael J., Lunt, Peter and Robinson, David O. (2007) Siblings with recessive oculopharyngeal muscular dystrophy Neuromuscular Disorders, 17, (3), pp. 254-257. (doi:10.1016/j.nmd.2006.11.009).

Record type: Article

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late onset myopathy usually presenting in the 5th or 6th decade of life with progressive ptosis, dysphagia and proximal muscle weakness. It is usually dominantly inherited; however, a rare recessive form has also been described although documentation of such cases in the literature is very sparse. Here we report two siblings with recessive OPMD, in one of whom the clinical picture is complicated by ankylosing spondilitis and pneumonia. They exhibit later onset and milder symptoms than is typical for patients with dominantly inherited OPMD. This and the possibility that OPMD may be masked by symptoms of other diseases of the elderly may account for the paucity of cases of recessive OPMD reported in the literature.

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Published date: March 2007
Keywords: disease, siblings, muscle, genetics, patients, oculopharyngeal, female, pneumonia, muscular dystrophy, elderly, pathology, muscle weakness, gastroenterology

Identifiers

Local EPrints ID: 59821
URI: http://eprints.soton.ac.uk/id/eprint/59821
ISSN: 0960-8966
PURE UUID: cd821c8d-6125-4380-bb2e-1a2ff26d6823

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 17 Jul 2017 14:24

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Contributors

Author: Srisha Hebbar
Author: Michael J. Webberley
Author: Peter Lunt
Author: David O. Robinson

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