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