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