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GENATLAS PHENOTYPE

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

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