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