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