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