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.
|
Bradykinesia
Dystonia, limb Dystonia, lower face Lower limb dystonia Dystonia, task-specific Dystonia, generalized Dystonia, craniofacial Muscular hypotonia Dystonia, arm Dystonia (any or unspecified) Hyperreflexia Dystonia/Parkinsonism Motor delay Upper limb dystonia Dystonia, hand Delayed speech and language development Dystonia, leg Dystonia, foot Dystonia, axial Show more (+16) |
n.a.
|