myoclonic dystonia 26

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 t

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.

Signs and symptoms

• Dystonia
• Myoclonus
• Torticollis
• Laryngeal dystonia
• Dysphonia
• Blepharospasm
• Dysarthria
• Depression
• Anxiety