Article
Intrafamilial phenotypic variability in DYT-ANO3: Video documentation of 16 affected members from an Indian family.
Parkinsonism & related disorders - 1 Jun 2026
Ganguly Jacky, Keshav Rohit, Choudhury Supriyo, Chowdhury Sayoni Roy, Bishayee Rahul, Dutta Debayan, Mukherjee Soumava, Basu Purba, Sarmah Nilanju Pran, Kumar Hrishikesh
Abstract excerpt
DYT-ANO3 is an autosomal dominant dystonia syndrome caused by pathogenic variants in the ANO3 gene, typically presenting as focal or segmental dystonia of the neck and upper limbs, often accompanied by tremor. However, the clinical spectrum has broadened to include a variety of movement phenotypes. Here, we report a large Indian family harbouring a novel ANO3 variant, demonstrating wide phenotypic heterogeneity.
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