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