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, limb
Diurnal fluctuations Dystonia, arm Hyperreflexia Dystonia, foot Upper limb dystonia Lower limb dystonia Dystonia, generalized Dystonia, task-specific Dystonia/Parkinsonism Parkinsonism Dystonia (any or unspecified) Dystonia, axial Dystonia, leg Show more (+11) |
Dystonia, foot
|
|
Yes
|
♀
|
C
|
ITA
|
8
|
36
|
n.a.
|
Dystonia (any or unspecified)
Upper limb dystonia Dystonia, limb Hyperreflexia Dystonia, axial Dystonia, arm Dystonia, hand Diurnal fluctuations Dystonia, leg Dystonia, generalized Lower limb dystonia Show more (+8) |
Dystonia, leg
|
|
Yes
|
♀
|
C
|
ITA
|
28
|
30
|
n.a.
|
Rigidity
Dystonia, leg Parkinsonism Lower limb dystonia Dystonia, foot Bradykinesia Dystonia (any or unspecified) Dystonia, limb Dystonia, segmental/multifocal Dystonia/Parkinsonism Show more (+7) |
Dystonia, foot
|
|
Yes
|
♂
|
C
|
ITA
|
7
|
36
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, limb Rigidity Dystonia, foot Dystonia, leg Dystonia, segmental/multifocal Parkinsonism Bradykinesia Dystonia/Parkinsonism Spasticity Lower limb dystonia Show more (+8) |
Dystonia, foot
|
|
No
|
♂
|
C
|
ITA
|
40
|
65
|
n.a.
|
Dystonia, limb
Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, task-specific Tremor, limb Hand tremor Dystonia, leg Lower limb dystonia Resting tremor Show more (+6) |
Resting tremor
|
|
Yes
|
♀
|
C
|
ITA
|
0
|
16
|
n.a.
|
Dystonia, hand
Dystonia, axial Dystonia, leg Dystonia (any or unspecified) Dystonia, foot Dystonia, generalized Diurnal fluctuations Rigidity Upper limb dystonia Lower limb dystonia Dystonia, arm Dystonia, limb Dyskinesia Show more (+10) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
42
|
No
|
Dystonia, hand
Dystonia, arm Parkinsonism Dystonia, foot Upper limb dystonia Postural instability Dystonia, leg Lower limb dystonia Bradykinesia Dystonia/Parkinsonism Sleep benefit Dystonia, task-specific Rigidity Dystonia (any or unspecified) Dystonia, generalized Dystonia, limb Dystonia, axial Diurnal fluctuations Hyperreflexia Show more (+16) |
Dystonia, foot
|
|
No
|
♀
|
C
|
ITA
|
0
|
16
|
n.a.
|
Dystonia, limb
Rigidity Upper limb dystonia Diurnal fluctuations Dystonia, foot Lower limb dystonia Dystonia (any or unspecified) Dystonia, leg Dystonia, hand Dyskinesia Dystonia, generalized Dystonia, arm Dystonia, axial Show more (+10) |
n.a.
|