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- Shimazaki Rui
- Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan
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- Ikezawa Jun
- Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan
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- Okiyama Ryoichi
- Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan
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- Azuma Kenko
- Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan
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- Akagawa Hiroyuki
- Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan
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- Takahashi Kazushi
- Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan
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抄録
<p>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). </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 61 (15), 2357-2360, 2022-08-01
一般社団法人 日本内科学会