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Oculopharyngeal muscular dystrophy: clinical and CT findings

✍ Scribed by C. Bilgen; I.G. Bilgen; R.N. Sener

Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
712 KB
Volume
25
Category
Article
ISSN
0895-6111

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✦ Synopsis

A family affected with oculopharygeal muscular dystrophy (OPMD) is reported. This is an uncommon progressive myopathy. The proband presented for evaluation of secretory otitis media with effusion, as a result of tubal dysfunction. CT examination of the father revealed prominent muscular atrophy, and widespread fatty degeneration of the psoas, paraspinal, gluteal and femoral muscles.

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Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestor