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