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Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan
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- M.PH., Ph.D. Shibata Yuka
- Division of Clinical Genetics, Hokkaido University Hospital
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- M.A. Chang Hyangri
- Department of Genomic Medicine, The University of Tokyo Hospital
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- M.D., Ph.D. Nakamura Katsuya
- Center for Medical Genetics, Shinshu University Hospital
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- M.D., Ph.D. Yamada Shinichiro
- Department of Neurology, Nagoya University Graduate School of Medicine
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- M.D., Ph.D. Matsushima Masaaki
- Division of Clinical Genetics, Hokkaido University Hospital Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
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- M.D., Ph.D. Saigoh Kazumasa
- Department of Clinical genetics, Kindai University Hospital
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- M.D., Ph.D. Ishiura Hiroyuki
- Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
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- M.D., Ph.D. Sekijima Yoshiki
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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- M.D., Ph.D. Maruyama Hirofumi
- Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences
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- M.D., Ph.D. Ikeuchi Takeshi
- Department of Molecular Genetics, Brain Research Institute, Niigata University
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- M.D., Ph.D. Hasegawa Kazuko
- Department of Neurology, National Hospital Organization, Sagamihara National Hospital
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- M.D., Ph.D. Aoki Masashi
- Department of Neurology, Tohoku University Graduate School of Medicine
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- M.D., Ph.D. Katsuno Masahisa
- Department of Neurology, Nagoya University Graduate School of Medicine
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- M.D., Ph.D. Toda Tatsushi
- Department of Genomic Medicine, The University of Tokyo Hospital Department of Neurology, Graduate School of Medicine, University of Tokyo
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- M.D., Ph.D. Yabe Ichiro
- Division of Clinical Genetics, Hokkaido University Hospital Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
Bibliographic Information
- Other Title
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- 本邦における成人発症の遺伝性神経・筋疾患の発症前検査に関する手引きとその作成経緯
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Description
<p>In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese medical system, because the development of disease-modifying therapies has progressed, and we are entering an era in which early diagnosis and early treatment are necessary. The guidelines presented here were devised by the Committee on Medical Genetics of the Japan Neurological Society. During their development, Delphi surveys were conducted among individuals with extensive experience in presymptomatic testing throughout Japan, with 42 experts participating in all three surveys, and a consensus-building process was undertaken. Finally, the guidelines consist of 45 recommendations for performing presymptomatic testing for adult-onset inherited neurological and muscular diseases.</p>
Journal
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- Rinsho Shinkeigaku
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Rinsho Shinkeigaku 65 (2), 101-107, 2025
Societas Neurologica Japonica
