Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes.

Abstract excerpt

Childhood-onset dystonia, a clinically and genetically diverse group of disorders, can be challenging to diagnose. Information on the genotype and phenotype spectrum in the Indian population is limited. This study reports the clinical and molecular findings of monogenic childhood-onset dystonia in 22 individuals from 19 Indian families. Complex dystonia was the most frequent type, followed by combined and...

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