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myoclonic dystonia 26

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014620:  myoclonic dystonia 26
UMLS:C4225341: