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