アカガワ　ヒロユキ   AKAGAWA Hiroyuki   赤川　浩之    所属   研究施設 研究施設    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Dystonic Tremor in Adult-onset DYT-KMT2B: A Case Report.
掲載誌名	正式名：Internal medicine (Tokyo, Japan) 略　 称：Intern Med ISSNコード：13497235/09182918
掲載区分	国外
巻・号・頁	pp.1-5
著者・共著者	Shimazaki Rui, Ikezawa Jun, Okiyama Ryoichi, Azuma Kenko, Akagawa Hiroyuki, Takahashi Kazushi
発行年月	2022/01/13
概要	KMT2B-related dystonia (DYT28, DYT-KMT2B) is an inherited dystonia that generally begins in the lower limbs during childhood and evolves into generalized dystonia. We herein report a case of adult-onset DYT28 with dystonic tremor. A 27-year-old woman initially displayed right upper limb and cervical tremors over the course of 1 year. A neurological examination also revealed cervical and lower limb dystonia. Although the disease generally develops during childhood, we diagnosed the woman with DYT28, as genetic testing revealed a mutation in KMT2B. Adult-onset patients with DYT28 might also show uncommon symptoms as well as DYT-TOR1A (DYT1).
DOI	10.2169/internalmedicine.8700-21
PMID	35022352