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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-06-2015
Symbol DYT26
Location 22q12.3
Name myoclonic dystonia 26
Corresponding gene KCTD17
Main clinical features
  • characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life; the disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs
  • spasmodic dysphonia, facial myoclonus, blepharospasm, torticollis, and dystonic head jerks, predominant cranio-cervical and laryngeal involvement
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease