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