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

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dc.contributor.authorSingh, Ankur
dc.contributor.authorSucheta, Sucheta
dc.contributor.authorAbhinay, Abhishek
dc.contributor.authorPrasad, Rajniti
dc.date.accessioned2025-01-28T09:50:50Z
dc.date.available2025-01-28T09:50:50Z
dc.date.issued2023
dc.description.abstractDystonia 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. � 2023 Georg Thieme Verlag. All rights reserved.
dc.identifier.doihttps://doi.org/10.1055/s-0043-1769476
dc.identifier.issn13042580
dc.identifier.urihttps://dl.bhu.ac.in/ir/handle/123456789/22600
dc.language.isoen
dc.publisherGeorg Thieme Verlag
dc.subjectchildhood
dc.subjectdystonia
dc.subjectKMT2B
dc.titleA Child with KMT2B-Related Acute-Onset Dystonia: Clinical Pointers to Molecular Diagnosis
dc.typeArticle
dspace.entity.typePublication
journal.titleJournal of Pediatric Neurology
journalvolume.identifier.volume21

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