Molecular Classification Dystonia

 05 November 2004

DYTI (9q34): Early limb-onset primary torsion dystonia; autosomal dominant with 30% penetrance gene encodes torsinaA; all identified mutations are a GAG deletion

DYT2 (not mapped): Autosomal recessive in Gypsies

DYT3 (Xq13.1): X-linked Dystonia Parkinsonism (known as XDP or Lubag); almost all due to founder Filipino mutation; young adult-onset, cranial (including larynx/stridor) and limb dystonia, parkinsonism develops (or at onset) with shuffling, drooling

DYT4 (not mapped): Whispering dysphonia in Australian family; autosomal dominant

DYT5 (14q22. 1): Childhood-onset dopa-responsive dystonia (DRD) and parkinsonism; autosomal dominant with sex influenced reduced penetrance (higher in girls); gene encodes GTP Cyclohydrolase 1, many different mutations

DYT6 (8p): Adolescent and early adult-onset, mixed phenotype with limb, cervical and cranial onset and both limited and generalized spread; thus far only found in Mennonite families; autosomal dominant reduced penetrance

DYT7 (18p): Late-onset primary cervical dystonia in North German families, autosomal dominant with reduced penetrance

DYT8 (2q): Paroxysmal non-kinesigenic choreoathetosis (PNKC); autosomal dominant

DYT9 (1p): CSE, episodic choreoathetosis with spasticity, autosomal dominant

DYTI0 (not mapped): Paroxysmal kinesigenic dystonia (PKC)

DYT11 (7q): Myoclonus-dystonia, autosomal dominant childhood-onset dystonia (esp limbs and neck) and myoclonus (esp neck, shoulders, face), often better with alcohol

DYT12 (19q) Rapid-onset dystonia-parkinsonism (RDP), autosomal dominant with reduced penetrance

X-linked Australian dystonia deafness syndrome