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