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