J Mov Disord.
2020 May;13(2):154-158. 10.14802/jmd.19087.
Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
- Affiliations
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- 1Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- 2Neuroscience Center, Samsung Medical Center, Seoul, Korea
- 3Genomics Core Facility, Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea
- 4Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- KMID: 2503083
- DOI: http://doi.org/10.14802/jmd.19087
Abstract
- Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.
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