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