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