Preliminary Study Of A Family With Ophthalmoplegia,Dysphagia And Facial Weakness

Background and objectiveOculopharyngeal muscular dystrophy (OPMD) is a world wide rare disease, usually onset after 45 years old. Progressive ptosis, dysphagia and dysphonia is the critical sign. Some patients have ophthalmoplegia, facial muscle weakness, and if the extremities were involved, proximal extremities weakness will be more prominant than distal ones. FINI is the pathological mark in muscle of OPMD. Gene test show that all OPMD patients have PABPN1 mutation , in most cases, (GCG) repeat sequence expand to 8-13, some reports show (GCA)_n(GCG)_n insert into (GCG)₆↓ (GCA)3GCG can also cause this disorder, a missence point mutation has been reported also cause OPMD recently. Till this time, no gene mutation of OPMD has been reported in China. The family in our study is very alike OPMD except the early onset, so we want to study it thoroughly, to discuss the classification and pathogenesis of the disease, and compare it with OPMD. methodInterview the 31 family members in Shanghai and Nanjing district. In addition to history and physical exam, we also get the patients' electrophysiological and pathological data to exclude the neuromuscular junction disease and metabolic myopathy. Obtain the blood sample from patients and normal onset members of the family, extract DNA from leukocyte. Expand the first exon of PABPN1 through PCR protocal and test the sequence of PCR product. ResultElectrophysiology and myopathic outcome support the diagnosis of muscular dystrophy. The (GCG)6(GCA)3GCG in the first exon of PABPN1 has no mutation either in normal family members or in patients.ConclusionWe find a family has an AD inheridated disease which is somewhat resembling to OPMD in clinical features and apparently different from other disease include reported subtype of muscular dystrophy and metabolic myopathy. But the disease is totally different in genetic background to OPMD. It may be a new subtype of muscular dystrophy.