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, limb
Blepharospasm
Dysphonia
Dystonia, arm
Dystonia, laryngeal
Dystonia, cervical
Dystonia, axial
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, jaw
Tremor, limb
Dystonia, foot
Dystonia, lower face
Dystonia, hand
Dystonia, leg
Tremor (any or unspecified)
Dystonia, craniofacial
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n.a.
p.Arg29*: het