Yildiz, 2017: Overview of all reported DYT/PARK-SLC6A3 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
0
2
No
Dystonia, parkinsonism or dyskinesia
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, cervical
Hyperreflexia
Dystonia, generalized
Muscular hypotonia
Ptosis
Rigidity
Dystonia, arm
Motor delay
Developmental delay/intellectual disability
Dyskinesia
Dystonia, oromandibular
Dystonic crisis
Dystonia, hand
Dystonia, leg
Dystonia, foot
Anarthria
Dyskinesia, orolingual
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Dystonia, generalized
Muscular hypotonia
Yes
n.a.
n.a.
0
4
No
Dystonia, leg
Dystonia, oromandibular
Dystonia, parkinsonism or dyskinesia
Dystonia, limb
Dystonia, generalized
Dystonia, cervical
Anarthria
Dyskinesia
Developmental delay/intellectual disability
Tremor (any or unspecified)
Dystonia, axial
Muscular hypotonia
Dystonia, hand
Motor delay
Dystonia (any or unspecified)
Dystonic crisis
Rigidity
Dystonia, foot
Dyskinesia, orolingual
Dystonia, arm
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Dystonia, generalized
Muscular hypotonia