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