Basal ganglia-cerebellar and brainstem-cerebellar circuits may interact improperly with dystonia. Linking network disruptions to cell failure will enable understanding pathophysiology and designing gene therapy methods

Abstract

From the preceding, it may be deduced that coupled dystonia syndromes are different, as are the disease phenotypes caused by the same gene. There are different starting ages, different symptom presentations, different disease manifestations, and atypical presentations. Accepting clinical exome sequencing and gene panels in the diagnosis of genetic diseases has also widened genotypes and phenotypes. It's critical to stay on top of the latest advances in genetic technology and to comprehend the full scope of these fascinating diseases. Online resources are updated on a regular basis and incorporate genetic and phenotypic data. Neurophysiology and imaging methods are important for better phenotyping and complementing clinical outcomes. Recent research suggests that the MYC/DYT-SGCE, XDP, and RDP basal ganglia-cerebellar and brainstem-cerebellar circuits may interact abnormally. Linking network interruptions to cellular failure will help us better grasp the underlying pathophysiology and teach us new treatment strategies.