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Oculopharyngeal muscular dystrophy (OPMD) (MIM 164300), [1] an autosomal dominant disorder clinically characterized by ptosis and dysphagia, [2] usually manifests insidiously after the fifth decade of life. [3] Involvement of the extraocular muscles early in the course of the disease is uncommon, and cardiac muscles are spared. [2,3] Intranuclear tubulofilamentous inclusions (ITI) within muscle fibers are characteristic of the disease. [4-12] The presence of rimmed vacuoles is indicative, but not specific to OPMD. [3,13,14] Linkage study has shown that the OPMD locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. [15] Most of early documented patients with OPMD [16-25] were French-Canadians whose common ancestors emigrated from France to Quebec in 1634. [19] There have been numerous affected families, related or unrelated to French-Canadians, reported from various communities around the world, [2,4,5,8,10-12,26-48] but except for one black family, [48] all were white. There are no morphologically confirmed OPMD cases in Orientals.
We present two unrelated Japanese families with OPMD, and describe the results of the clinicopathologic investigations performed.
Methods.
Case reports.
We identified two affected families who live in areas distant from each other: Family 1 in Kumamoto Prefecture (Southern Japan) and Family 2 in Shizuoka Prefecture (Central Japan). The pedigrees are shown in Figure 1. Each member in the two families descended from unrelated Japanese ancestors, going back at least to the 18th century. There were no consanguineous marriages in the two families. The clinical summaries of patients 1 through 10 are shown in Table 1.
Figure 1. The pedigrees of Family 1 of Kumamoto (A) and Family 2 of Shizuoka (B), Japan. The black symbols indicate definitely affected individuals who were examined. The black symbols with right upper asterisks indicate fully affected persons who were not examined. The half-filled symbols represent …
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