The University of Southampton
University of Southampton Institutional Repository

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


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.

Full text not available from this repository.

More information

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


Local EPrints ID: 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

Export record



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

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton:

ePrints Soton supports OAI 2.0 with a base URL of

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.