MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

MENU 
  • Home
  • Meetings Archive
    • 2024 International Congress
    • 2023 International Congress
    • 2022 International Congress
    • MDS Virtual Congress 2021
    • MDS Virtual Congress 2020
    • 2019 International Congress
    • 2018 International Congress
    • 2017 International Congress
    • 2016 International Congress
  • Keyword Index
  • Resources
  • Advanced Search

DEEP BRAIN STIMULATION RESPONSE IN SIBLINGS WITH KMT2B DYSTONIA

E. Luque-Buzo, B. Casa Fages, J. Pérez Sáchez, M. González Sánchez, C. Fernández Carballal, JM. Garbizu Vidorreta, O. Sierra Mateo, A. Contreras Chicote, F. Grandas Pérez (Madrid, Spain)

Meeting: MDS Virtual Congress 2021

Abstract Number: 1224

Keywords: Deep brain stimulation (DBS), Dystonia: Treatment

Category: Surgical Therapy: Other Movement Disorders

Objective: To report two cases of adult-onset KMT2B related dystonia treated with pallidal deep brain stimulation (DBS).

Background: KMT2B gene mutations have been described as a new cause of progressive generalized dystonia usually of childhood onset and typically starting as lower limb dystonia that spreads to generalized dystonia in a few years.

Method: we present two cases of siblings with adult-onset axial dystonia related to pathogenic heterozygous variant in KMT2B gene treated with bilateral internal globus pallidus (GPi) DBS.
First case is a 56 years-old female with mood disorder and mild obsessive control disorder. At age 52, she noticed backwards cervical spasms and cervical pain mainly during walking that progressed in 18 months to severe cervical and axial spasms affecting her daily activities.
Second case, is a 38 years-old brother with no relevant medical history. At age 36 he started with axial and retrocollis spasms when standing, walking, running, even when laying, that worsened over time interfering his daily activities. In both cases, there was no response to pharmacological treatments, including botulinum toxin injections, so GPi-DBS was decided.
Under general anaesthesia, bilateral electrodes (Medtronic® 3389) were implanted into bilateral GPi and connected to a neural stimulator (Medtronic® ACTIVA RC). Post-surgery cranial MRI was performed showing a correct placement of the electrodes and no complications.

Results: In the first case, after two months of DBS surgery, patient presented a significant improvement of dystonia with only occasionally retrocollis spasms. The improvement was maintained in last follow-up (24-months). In the second case, he presented a moderate improvement but still showed cervical spasms during walking, so he still needed DBS setting adjustments in last follow-up (12 months).

Conclusion: Dystonia due to KMT2B mutations present a poor response to anti-dystonic drugs. GPi-DBS surgery is a good therapy option for KMT2B related dystonia as shown in our cases and previous reports.

To cite this abstract in AMA style:

E. Luque-Buzo, B. Casa Fages, J. Pérez Sáchez, M. González Sánchez, C. Fernández Carballal, JM. Garbizu Vidorreta, O. Sierra Mateo, A. Contreras Chicote, F. Grandas Pérez. DEEP BRAIN STIMULATION RESPONSE IN SIBLINGS WITH KMT2B DYSTONIA [abstract]. Mov Disord. 2021; 36 (suppl 1). https://www.mdsabstracts.org/abstract/deep-brain-stimulation-response-in-siblings-with-kmt2b-dystonia/. Accessed July 16, 2025.
  • Tweet
  • Click to email a link to a friend (Opens in new window) Email
  • Click to print (Opens in new window) Print

« Back to MDS Virtual Congress 2021

MDS Abstracts - https://www.mdsabstracts.org/abstract/deep-brain-stimulation-response-in-siblings-with-kmt2b-dystonia/

Most Viewed Abstracts

  • This Week
  • This Month
  • All Time
  • What is the appropriate sleep position for Parkinson's disease patients with orthostatic hypotension in the morning?
  • Covid vaccine induced parkinsonism and cognitive dysfunction
  • Life expectancy with and without Parkinson’s disease in the general population
  • #25179 (not found)
  • Screening and Treatment of Depression in Parkinson’s Disease within Movement Disorders Centers: A Quality Improvement Initiative
  • Covid vaccine induced parkinsonism and cognitive dysfunction
  • What is the appropriate sleep position for Parkinson's disease patients with orthostatic hypotension in the morning?
  • Life expectancy with and without Parkinson’s disease in the general population
  • An atypical and interesting feature of Parkinson´s disease
  • Estimation of the 2020 Global Population of Parkinson’s Disease (PD)
  • DaTscan in clinical evaluation of Multiple System Atrophy
  • Decision-making process for opicapone’s bedtime regimen
  • Help & Support
  • About Us
  • Cookies & Privacy
  • Wiley Job Network
  • Terms & Conditions
  • Advertisers & Agents
Copyright © 2025 International Parkinson and Movement Disorder Society. All Rights Reserved.
Wiley