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