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