Garavaglia, 2004: Overview of all reported DYT/PARK-GCH1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
ITA
|
6
|
34
|
n.a.
|
Dystonia, foot
Dystonia, task-specific Dystonia/Parkinsonism Upper limb dystonia Parkinsonism Dystonia, arm Dystonia, limb Diurnal fluctuations Dystonia, leg Hyperreflexia Lower limb dystonia Dystonia, generalized Dystonia (any or unspecified) Dystonia, axial Show more (+11) |
Dystonia, foot
|
|
Yes
|
♀
|
C
|
ITA
|
8
|
36
|
n.a.
|
Lower limb dystonia
Dystonia, axial Dystonia, arm Dystonia, hand Diurnal fluctuations Dystonia (any or unspecified) Hyperreflexia Dystonia, generalized Dystonia, limb Upper limb dystonia Dystonia, leg Show more (+8) |
Dystonia, leg
|
|
Yes
|
♀
|
C
|
ITA
|
28
|
30
|
n.a.
|
Dystonia, limb
Bradykinesia Rigidity Parkinsonism Dystonia, leg Dystonia, segmental/multifocal Dystonia, foot Dystonia/Parkinsonism Lower limb dystonia Dystonia (any or unspecified) Show more (+7) |
Dystonia, foot
|
|
Yes
|
♂
|
C
|
ITA
|
7
|
36
|
n.a.
|
Lower limb dystonia
Dystonia/Parkinsonism Dystonia, leg Dystonia, foot Parkinsonism Bradykinesia Rigidity Dystonia (any or unspecified) Spasticity Dystonia, limb Dystonia, segmental/multifocal Show more (+8) |
Dystonia, foot
|
|
No
|
♂
|
C
|
ITA
|
40
|
65
|
n.a.
|
Hand tremor
Dystonia, leg Dystonia, task-specific Lower limb dystonia Tremor, limb Tremor (any or unspecified) Dystonia, limb Dystonia (any or unspecified) Resting tremor Show more (+6) |
Resting tremor
|
|
Yes
|
♀
|
C
|
ITA
|
0
|
16
|
n.a.
|
Dystonia, generalized
Dystonia, axial Dyskinesia Dystonia, hand Dystonia (any or unspecified) Dystonia, limb Dystonia, foot Rigidity Upper limb dystonia Diurnal fluctuations Dystonia, leg Lower limb dystonia Dystonia, arm Show more (+10) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
42
|
No
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, task-specific Dystonia, arm Sleep benefit Upper limb dystonia Dystonia, axial Dystonia/Parkinsonism Dystonia, hand Dystonia, limb Dystonia, leg Dystonia, foot Bradykinesia Parkinsonism Diurnal fluctuations Postural instability Rigidity Hyperreflexia Lower limb dystonia Show more (+16) |
Dystonia, foot
|
|
No
|
♀
|
C
|
ITA
|
0
|
16
|
n.a.
|
Rigidity
Dystonia, leg Dystonia, foot Lower limb dystonia Diurnal fluctuations Dystonia (any or unspecified) Dystonia, limb Dystonia, arm Dystonia, axial Dystonia, hand Dyskinesia Dystonia, generalized Upper limb dystonia Show more (+10) |
n.a.
|