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