Late-onset KMT2B-related dystonia in an Indian patient with normal cognition, dystonic opisthotonus and lack of oromandibular and laryngeal involvement

Pandey, Sanjay; Bhattad, Sonali; Panda, Ashwin Kumar; Mahadevan, Lakshmi

doi:10.1016/j.parkreldis.2020.03.015

Cited by 7 publications

(12 citation statements)

References 5 publications

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“…We did not observe any patients with ANO3, GNAL, or KMT2B mutations, which are among the recently described monogenic DYTs. This is consistent with previous reports with only a single patient with dystonia each due to GNAL 18 and KMT2B 19 mutations described thus far from India and none due to ANO3 mutations. The frequency of a particular genetic mutation depends on population studies, which also has to be kept in mind when designing targeted gene panels to suit the population being tested.…”

Section: Discussionsupporting

confidence: 93%

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Holla

Neeraja

Stezin

et al. 2022

JMD

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ObjectiveaaWith the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.MethodsaaThis study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.ResultsaaForty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1-58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.ConclusionaaCES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.

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Section: Discussionsupporting

confidence: 93%

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Holla

Neeraja

Stezin

et al. 2022

JMD

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“…In Table , we summarize all adult-onset cases reported thus far. Interestingly, the onset site was not the lower limbs in any adult-onset cases; in three cases, the onset began in the upper limbs ( 4 , 7 , 8 ); in one case, in the neck ( 9 ); in one case, in the larynx ( 7 ); and in two cases, the site was unknown ( 6 , 10 ). Furthermore, only one case other than the present case showed tremor at an onset age of ≥18 years old.…”

Section: Discussionmentioning

confidence: 98%

Dystonic Tremor in Adult-onset DYT-<i>KMT2B</i>

et al. 2022

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KMT2B -related dystonia (DYT28, DYT- KMT2B ) is an inherited dystonia that generally begins in the lower limbs during childhood and evolves into generalized dystonia. We herein report a case of adult-onset DYT28 with dystonic tremor. A 27-year-old woman initially displayed right upper limb and cervical tremors over the course of 1 year. A neurological examination also revealed cervical and lower limb dystonia. Although the disease generally develops during childhood, we diagnosed the woman with DYT28, as genetic testing revealed a mutation in KMT2B . Adult-onset patients with DYT28 might also show uncommon symptoms as well as DYT- TOR1A (DYT1).

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“…4 Literature search revealed three Indian case reports of this rare childhood-onset dystonia. [5][6][7] We tabulated clinical features, neuroimaging, genetic study of all cases, and compared our present case.…”

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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Late-onset KMT2B-related dystonia in an Indian patient with normal cognition, dystonic opisthotonus and lack of oromandibular and laryngeal involvement

Cited by 7 publications

References 5 publications

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Dystonic Tremor in Adult-onset DYT-<i>KMT2B</i>

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

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