KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.

ABSTRACT:

Objective

aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.

Methods

aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.

Results

aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median durati

SUBMITTER: Dhar D 

PROVIDER: S-EPMC10548078 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature