Flotats-Bastardas, 2018: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♀
n.a.
n.a.
n.a.
2
n.a.
Upper limb dystonia
Delayed speech and language development
Motor delay
Dystonia, lower face
Dystonia, craniofacial
Muscular hypotonia
Lower limb dystonia
Dystonia, limb
Dystonia, hand
Dystonia, generalized
Dystonia, foot
Bradykinesia
Hyperreflexia
Dystonia, arm
Dystonia (any or unspecified)
Dystonia/Parkinsonism
Dystonia, leg
Dystonia, task-specific
Dystonia, axial
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n.a.