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Siblings with recessive oculopharyngeal muscular dystrophy.

Authors
Type
Published Article
Journal
Neuromuscular Disorders
0960-8966
Publisher
Elsevier
Publication Date
Volume
17
Issue
3
Pages
254–257
Identifiers
PMID: 17296297
Source
Medline

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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