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