Family case of oculopharyngeal myodystrophy in Ust-Aldansky ulus of Republic of Sakha (Yakutia)
https://doi.org/10.25789/YMJ.2021.73.32
Abstract
The clinical and genetic characteristics of a family with oculopharyngeal muscular dystrophy (OPMD) were studied in order to draw up a plan for management of such patients. Considering the course of the disease, characterized by the steady development of the disease, which leads to a decrease in the quality of life, patients with OPMD need to undergo courses of symptomatic therapy in a specialized neurological department, inform the population about the modes of transmission of the disease, prenatal diagnosis and adequate available interventions, about supportive care to reduce the risk of suffocation and other complications of OPMD.
About the Authors
M. A. Varlamova
Center for Neurodegenerative Diseases of the Clinic of the YSC CMP
Russian Federation
Russian Federation
Varlamova Marina A. - Researcher, neurologist
Ph.D .: 8 (914) 298 87 60
Kh. A. Kurtanov
Molecular Genetics of YSC CMP
Russian Federation
Russian Federation
Kurtanov Khariton A. - Candidate of Medical Sciences, Chief Researcher, Head of the Department
Ph.D .: +7 (914) 106 00 30
T. K. Davydova
Molecular Genetics of YSC CMP
Russian Federation
Russian Federation
Davydova Tatyana K. - Candidate of Medical Sciences, Leading Researcher - Leader. TsNDZ
N. I. Pavlova
Molecular Genetics of YSC CMP
Russian Federation
Russian Federation
Pavlova N.I. - Ph.D., Leading Researcher, Laboratory of Hereditary Pathology, Department
A. S. Petrova
State Budgetary Institution of the Republic of Sakha (Yakutia) "Ust-Aldan Central Regional Hospital named after G.G. Nikiforov
Russian Federation
Russian Federation
Petrova Anna Savvichna - chief physician
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Review
For citations:
Varlamova M.A., Kurtanov Kh.A., Davydova T.K., Pavlova N.I., Petrova A.S. Family case of oculopharyngeal myodystrophy in Ust-Aldansky ulus of Republic of Sakha (Yakutia). Yakut Medical Journal. 2021;(1):123-126. https://doi.org/10.25789/YMJ.2021.73.32
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