myoclonic dystonia 26

Term ID

DOID:0090036

Synonyms

Definition

A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. (2)

References

• MIM:616398

Ontology

Human Disease   ( DOID:0090036 )