Article
A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2022
Owczarzak Laura R, Hogan Kelsey E, Dineen Richard T, Gill Chandler E, Li Mindy H
Abstract excerpt
Background: KMT2B-related dystonia is a primarily childhood-onset movement disorder characterized by progressive dystonia, spasticity, and developmental delay. A minority of individuals possess an inherited KMT2B 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...
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