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