Wassenberg, 2020: 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.
|
14
|
59
|
No
|
Dystonia/Parkinsonism
Dystonia (any or unspecified) Parkinsonism Diurnal fluctuations Hyperreflexia Spasticity Dystonia, cervical Upper limb dystonia Bradykinesia Dystonia, segmental/multifocal Dyskinesia Autonomic sign/sympt. Dystonia, arm Dystonia, limb Show more (+11) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
2
|
58
|
n.a.
|
Lower limb dystonia
Dystonia, leg Dystonia, generalized Hyperreflexia Diurnal fluctuations Dystonia/Parkinsonism Parkinsonism Dystonia (any or unspecified) Dystonia, axial Dystonia, cervical Spasticity Dystonia, foot Autonomic sign/sympt. Dystonia, limb Show more (+11) |
Lower limb dystonia
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
28
|
n.a.
|
Spasticity
Diurnal fluctuations Hyperreflexia |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
54
|
No
|
n.a.
|