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Oculopharyngodistal Myopathy in a Thai Family

1518

Rawiphan Witoonpanich MD, FRCP*,
Sriphan Phankhian MD*, Thanyachai Sura MD*,
Patcharee Lertrit MD, PhD**, Suchart Phudhichareonrat MD, FRCPC***,****

* Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University
** Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University
*** Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University
**** Department of Pathology, Prasat Neurological Institute

Abstract


There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter. The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand.

Keyword : Oculopharyngodistal myopathy, Thai family



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