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