CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

ConclusionsThis work validates our previous observation that dystonia is part of the phenotypic spectrum ofCHD8-related neurodevelopmental disorders with potential female preponderance, raising new challenges and opportunities in the diagnosis and management of this condition. It also highlights the importance of in-depth neurologic phenotyping of patients carrying variants associated with neurodevelopmental disorders, as the connection between neurodevelopmental and movement disorders is proving closer than previously appreciated.
Source: Journal of Neurology - Category: Neurology Source Type: research