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