Art

J-GLOBAL ID：201902248369387609   Reference number：19A2827014

Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome

慢性呼吸不全と睡眠時無呼吸症候群を呈する異なる表現型を示す筋強直性ジストロフィー1型を有する2成人兄弟【JST・京大機械翻訳】

Author (15)： Kohno Genta (Division of Diabetes and Metabolic Diseases, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Ogawa Katsuhiko (Department of Internal Medicine, Nihon University Hospital, Tokyo, Japan) ,  Ogawa Katsuhiko (Division of Neurology, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Kushimoto Masaru (Department of Internal Medicine, Nihon University Hospital, Tokyo, Japan) ,  Tanaka Sho (Department of Internal Medicine, Nihon University Hospital, Tokyo, Japan) ,  Tanaka Sho (Division of Nephrology, Hypertension and Endocrinology, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Ikeda Jin (Department of Internal Medicine, Nihon University Hospital, Tokyo, Japan) ,  Nishizawa Tsukasa (Division of Respiratory Medicine, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Mitsuke Kazutaka (Division of Neurology, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Nakayama Tomohiro (Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan) ,  Suzuki Yutaka (Department of Internal Medicine, Nihon University Hospital, Tokyo, Japan) ,  Suzuki Yutaka (Division of Neurology, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Ishihara Hisamitsu (Division of Diabetes and Metabolic Diseases, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Fujishiro Midori (Division of Diabetes and Metabolic Diseases, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan) ,  Fujishiro Midori (Department of Internal Medicine, Nihon University Hospital, Tokyo, Japan)
Material： Frontiers in Neurology (Web)
Volume： 10  Page： 681  Publication year： 2019 
JST Material Number： U7085A  ISSN： 1664-2295  Document type： Article
Article type： 原著論文  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： Myotonic dystrophy type 1 (DM1...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=19A2827014&from=J-GLOBAL&jstjournalNo=U7085A") }}

Thesaurus term： pathogenesis ,  muscle weakness ,  oxygen deficiency ,  dysfunction ,  respiratory muscle ,  *respiratory insufficiency ,  central nervous system ,  early diagnosis ,  heart ,  adult(person) ,  autosome ,  *sleep apnea syndrome ,  upper respiratory tract ,  dominance ,  *phenotype

Author keywords (5)： myotonic dystrophy type 1 ,  siblings ,  different phenotypes ,  respiratory insufficiency ,  sleep apnea syndrome

JST classification (1)： Nervous system diseases  (GN03000O)

Reference (26)：

• Meola G, Cardani R. Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta. (2015) 1852:594-606. doi: 10.1016/j.bbadis.2014.05.019
• Poussel M, Thil C, Kaminsky P, Mercy M, Gomez E, Chaouat A, et al. Lack of correlation between the ventilatory response to co2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central level. Neuromuscul Disord. (2015) 25:403-8. doi: 10.1016/j.nmd.2015.02.006
• Hawkins AM, Hawkins CL, Abdul Razak K, Khoo TK, Tran K, Jackson RV. Respiratory dysfunction in myotonic dystrophy type 1: a systematic review. Neuromuscul Disord. (2018) 29:198-212. doi: 10.1016/j.nmd.2018.12.002
• Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF, Brunetti V, et al. Prevalence and predictor factors of respiratory impairment in a large cohort of patients with myotonic dystrophy type 1 (dm1): a retrospective, cross sectional study. J Neurol Sci. (2019) 399:118-24. doi: 10.1016/j.jns.2019.02.012
• Sansone VA, Gagnon C. 207th enmc workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research. Neuromuscul Disord. (2015) 25:432-42. doi: 10.1016/j.nmd.2015.01.011

Terms in the title (6)： 慢性呼吸不全 ,  睡眠時無呼吸症候群 ,  表現型 ,  筋強直性ジストロフィー1型 ,  成人 ,  兄弟