- •Dystonia-Deafness syndrome (DDS) can result from several known or unknown molecular or genetic causes.
- •ACTB (cytoplasmic beta actin) gene mutations can produce complex phenotypic spectra, like DDS and late-onset parkinsonism.
- •Pallidal Deep Brain Stimulation may produce a significant long-term benefit on dystonic signs of DDS.
Abbreviations:DDS (Dystonia-Deafness syndrome), BWCFE (Baraitser-Winter cerebrofrontofacial syndrome), ACTB (Cytoplasmic beta actin), GPi-DBS (Globus Pallidus internus Deep Brain Stimulation), BFMDRS-M (Burke-Fahn-Marsden Dystonia Rating Scale-Motor), MIBG (meta-iodobenzylguanidine)
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