Dulovic-Mahlow, 2019: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
POL
9
21
No
Torticollis
Dystonia,task-specific
Dystonia, laryngeal
Dystonia, hand
Dystonia, craniofacial
Dystonia, lower face
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, leg
Dysphonia
Tremor (any or unspecified)
Dystonia, arm
Dystonia, limb
Dystonia, axial
Dystonia, cervical
Dystonia, jaw
Tremor, limb
Blepharospasm
Show more (+16)
n.a.
p.Arg29*: het