A New Pathologic Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.

Background: -related dystonia is a primarily childhood-onset movement disorder characterized by progressive dystonia, spasticity, and developmental delay. A minority of individuals possess an inherited variant.

Case Report: As a child, the proband experienced mild developmental delay and laryngeal dystonia which progressed to generalized dystonia. Patellar hyperreflexia, postural tremor, and everted gait were documented. Whole exome sequencing identified a heterozygous pathogenic variant in the proband, proband's sister, and proband's mother who had milder presentations.

Discussion: This novel variant reflects intrafamilial variable expressivity in -related dystonia. Further identification of variants will allow for better appreciation of the phenotypic spectrum.