|
AKAGAWA HIROYUKI
Department Research Institutes and Facilities, Research Institutes and Facilities Position Associate Professor |
|
| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Dystonic Tremor in Adult-onset DYT-KMT2B: A Case Report. |
| Journal | Formal name：Internal medicine (Tokyo, Japan) Abbreviation：Intern Med ISSN code：13497235/09182918 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | pp.1-5 |
| Author and coauthor | Shimazaki Rui, Ikezawa Jun, Okiyama Ryoichi, Azuma Kenko, Akagawa Hiroyuki, Takahashi Kazushi |
| Publication date | 2022/01/13 |
| Summary | 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 |