期刊
INTERNAL MEDICINE
卷 61, 期 15, 页码 2357-2360出版社
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.8700-21
关键词
KMT2B-related dystonia; DYT28; dystonic tremor; dystonia
We report a case of adult-onset DYT28 with dystonic tremor, diagnosed based on genetic testing revealing a mutation in KMT2B. Adult-onset patients with DYT28 may also exhibit uncommon symptoms similar to DYT-TOR1A (DYT1).
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 re-vealed a mutation in KMT2B. Adult-onset patients with DYT28 might also show uncommon symptoms as well as DYT-TOR1A (DYT1).
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