Oculopharyngeal muscular dystrophy (OPMD) can be easily misdiagnosed. Specific criteria can help to identify these patients.
Chromosomal location: 14q11.2
Gene: PABPN1 (polyadenylate binding protein 2, PABP2)
The onset is usually during middle age (45 years of age or older).
Criteria for the diagnosis of the autosomal dominant form:
(1) There is a family history for 2 or more generations.
(2) The patient has evidence of ptosis (vertical separation of one or both palpebral fissues by less than 8 mm at rest) or a history of corrective surgery for ptosis.
(3) The patient has evidence of dysphagia.with dysfunction of the pharyngeal muscles and upper esophageal sphincter.
(4) Exclusion of other conditions such as myasthenia.
(5) Demonstration of larger than normal number of trinucleotide repeats in the first exon of PABPN1.
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