Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in <scp>DYT‐<i>KMT2B</i></scp> Patients with Evidence of Striatonigral Degeneration

Cif, Laura; Demailly, Diane; Vasques, Xavier; Verbizier, Delphine de; Coubes, Philippe; Gorman, Kathleen; Kurian, Manju A.

doi:10.1002/mdc3.13519

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2024

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Cited by 2 publications

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“…3 Pallidal deep brain stimulation (DBS) has emerged as important modality of treatment affecting quality of life of such children. 8 This has been tried in only one patient in Indian population with significant short-term benefits. 7…”

Section: Discussionmentioning

confidence: 99%

A Child with KMT2B-Related Acute-Onset Dystonia: Clinical Pointers to Molecular Diagnosis

Singh

Sucheta

Abhinay

et al. 2023

Journal of Pediatric Neurology

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Dystonia is common extrapyramidal presentation of neurological problems in childhood. The causes could range from infectious, autoimmune, drug-induced, or genetic in origin. Genetic causes are rare in origin but could masquerade the common causes. Recently, KMT2B-related dystonia has been identified as a common genetic cause of dystonia in childhood. We present a case of a 3.5-year-old with 18 months of follow-up, who was diagnosed with KMT2B-related dystonia and managed with antidystonia drugs to an acceptable level where she could perform her day-to-day work with ease. Here, we highlight certain clinical pointers of the disease and the need of special genetic test in diagnosing such cases. We also tabulated the three previously reported Indian cases and compared their parameter with ours.

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Section: Discussionmentioning

confidence: 99%