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