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