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Pallidal Deep Brain Stimulation for KMT2B Related Dystonia in An Indian Patient.

ABSTRACT: Outcomes of pallidal stimulation in KMT2B dystonia have been infrequently reported prospectively. We report the six-month outcomes of bilateral GPi DBS in an Asian Indian patient with early-onset generalized dystonia associated with a novel heterozygous variant in the KMT2B gene.

SUBMITTER: Rajan R

PROVIDER: S-EPMC8513985 | biostudies-literature | 2021 Jul-Aug

REPOSITORIES: biostudies-literature

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Pallidal Deep Brain Stimulation for KMT2B Related Dystonia in An Indian Patient.

Rajan Roopa R Garg Kanwaljeet K Saini Arti A Kumar Mukesh M Binukumar B K BK Scaria Vinod V Aggarwal Rajeev R Gupta Anu A Vishnu V Y VY Garg Ajay A Singh Mamta Bhushan MB Bhatia Rohit R Srivastava Achal K AK Padma Srivastava M V MV Singh Manmohan M

Annals of Indian Academy of Neurology 20210327 4

Outcomes of pallidal stimulation in KMT2B dystonia have been infrequently reported prospectively. We report the six-month outcomes of bilateral GPi DBS in an Asian Indian patient with early-onset generalized dystonia associated with a novel heterozygous variant in the KMT2B gene. ...[more]

PMID: 34728955

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Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia.

Project description: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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Adult-Onset KMT2B-Related Dystonia Responsive to Deep Brain Stimulation.