Nardocci, 2008: Overview of all reported MYC/DYT-SGCE patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
C
|
ITA
|
6
|
19
|
Yes
|
Dystonia (any or unspecified)
Dystonia, upper limb Myoclonus, lower limb Myoclonus,generalized Myoclonus, action Dystonia, cervical Myoclonus, Upper Limb Myoclonus at rest Myoclonus, cervical Myoclonus, face Dystonia, truncal Myoclonus Myoclonus, axial Show more (+10) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
5
|
28
|
Yes
|
Myoclonus, lower limb
Myoclonus,generalized Myoclonus, axial Dystonia, upper limb Myoclonus Dystonia, cervical Dystonia, truncal Dystonia (any or unspecified) Myoclonus, cervical Myoclonus, face Myoclonus, Upper Limb Myoclonus, action Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
6
|
48
|
Yes
|
Myoclonus, action
Myoclonus Myoclonus, Upper Limb |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
2
|
6
|
Yes
|
Myoclonus
Myoclonus at rest Dystonia, upper limb Myoclonus, cervical Myoclonus,generalized Myoclonus, action Myoclonus, axial Dystonia (any or unspecified) Myoclonus, Upper Limb Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
3
|
Yes
|
Myoclonus, axial
Myoclonus, Upper Limb Myoclonus Myoclonus, multifocal Myoclonus, cervical Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
1
|
21
|
Yes
|
Myoclonus, cervical
Myoclonus,generalized Dystonia (any or unspecified) Myoclonus, axial Dystonia, upper limb Dystonia, cervical Myoclonus, action Myoclonus, Upper Limb Myoclonus Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
25
|
Yes
|
Myoclonus, action
Myoclonus, axial Myoclonus,generalized Myoclonus, Upper Limb Myoclonus, cervical Myoclonus Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
3
|
8
|
Yes
|
Myoclonus, Upper Limb
Myoclonus at rest Myoclonus, action Myoclonus,generalized Writer's Cramp Dystonia (any or unspecified) Myoclonus Myoclonus, cervical Myoclonus, face Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
18
|
Yes
|
Myoclonus
Myoclonus, axial Myoclonus, action Myoclonus, Upper Limb Dystonia (any or unspecified) Dystonia, upper limb Myoclonus,generalized Dystonia, cervical Myoclonus, cervical Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
B
|
MAR
|
4
|
15
|
Yes
|
Myoclonus, axial
Myoclonus, Upper Limb Myoclonus,generalized Myoclonus, action Writer's Cramp Myoclonus, cervical Myoclonus at rest Myoclonus Dystonia (any or unspecified) Show more (+6) |
n.a.
|