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