Dystonia is a complex neurological disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures. While there is currently no cure for dystonia, various treatment options are available to reduce its symptoms and improve quality of life. These treatments often involve a multidisciplinary app
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Homozygous and compound heterozygous variants which were exonic and non-synonymous, synonymous with predicted splicing impact or intronic at ± 6 nucleotides from splice web-sites had been prioritized for further analysis determined by pedigrees of influenced family members, retaining center on autosomal recessive inheritance designs. Variants ha