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