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).


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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.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1016/j.nmd.2006.11.009
ISSNs: 0960-8966 (print)
Keywords: disease, siblings, muscle, genetics, patients, oculopharyngeal, female, pneumonia, muscular dystrophy, elderly, pathology, muscle weakness, gastroenterology

ePrint ID: 59821
Date :
Date Event
March 2007Published
Date Deposited: 04 Sep 2008
Last Modified: 16 Apr 2017 17:33
Further Information:Google Scholar

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