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