KMT2B gene-related dystonia (DYT-KMT2B) is a primarily childhood-onset movement disorder that usually starts with lower limb dystonia progressing into generalized dystonia. Our patient described in this study experienced difficulty gaining weight, laryngomalacia, and feeding difficulties during infancy and later developed gait difficulties, frequent falls, and toe walking. Gait assessment revealed prominent bilateral intoeing, intermittent ankle inversion, and extension of left leg. At times, the gait seemed to be spastic. Whole-exome sequencing revealed a novel de novo heterozygous likely pathogenic variant, c.7913 T > A (p.V2638E), in the KMT2B gene located in chromosome 19. This variant, which has not been previously published as pathogenic or benign in the literature, can be added to the repertoire of KMT2B variants causing inherited dystonias.
© 2023 American Academy of Neurology.