UniProtKB/Swiss-Prot

Dystonia 26, myoclonic: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs.

MalaCards based summary

Dystonia 26, Myoclonic, is also known as dyt26, and has symptoms including myoclonus, torticollis and dysarthria. An important gene associated with Dystonia 26, Myoclonic is KCTD17 (Potassium Channel Tetramerization Domain Containing 17).

Disease Ontology

A myoclonic dystonia characterized by autosomal dominant inheritance of myoclonic jerks affecting the upper limbs with onset in the first or second decade of life and progressive development that has material basis in heterozygous mutation in the KCTD17 gene on chromosome 22q12.

OMIM

Myoclonic dystonia-26 is an autosomal dominant neurologic disorder 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. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015). (616398)