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
|
Myoclonus, face
Myoclonus,generalized Myoclonus at rest Myoclonus, Upper Limb Myoclonus Dystonia, cervical Myoclonus, cervical Myoclonus, lower limb Myoclonus, action Dystonia (any or unspecified) Myoclonus, axial Dystonia, upper limb Dystonia, truncal Show more (+10) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
5
|
28
|
Yes
|
Myoclonus
Dystonia (any or unspecified) Myoclonus, action Dystonia, truncal Myoclonus, lower limb Myoclonus,generalized Dystonia, upper limb Myoclonus, Upper Limb Myoclonus, cervical Myoclonus, axial Dystonia, cervical Myoclonus, face Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
6
|
48
|
Yes
|
Myoclonus, Upper Limb
Myoclonus, action Myoclonus |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
2
|
6
|
Yes
|
Myoclonus, Upper Limb
Dystonia (any or unspecified) Myoclonus,generalized Myoclonus, axial Myoclonus, cervical Myoclonus at rest Myoclonus Dystonia, upper limb Myoclonus, action Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
3
|
Yes
|
Myoclonus, cervical
Myoclonus Myoclonus, multifocal Myoclonus, Upper Limb Myoclonus, axial Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
1
|
21
|
Yes
|
Myoclonus, action
Dystonia (any or unspecified) Dystonia, cervical Myoclonus, Upper Limb Myoclonus, cervical Myoclonus Myoclonus,generalized Dystonia, upper limb Myoclonus, axial Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
25
|
Yes
|
Myoclonus, cervical
Myoclonus, axial Myoclonus,generalized Myoclonus, Upper Limb Myoclonus Myoclonus, action Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
3
|
8
|
Yes
|
Myoclonus, cervical
Writer's Cramp Myoclonus Dystonia (any or unspecified) Myoclonus, action Myoclonus, face Myoclonus, Upper Limb Myoclonus at rest Myoclonus,generalized Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
18
|
Yes
|
Dystonia, upper limb
Myoclonus, action Myoclonus, axial Myoclonus,generalized Dystonia, cervical Myoclonus, cervical Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
B
|
MAR
|
4
|
15
|
Yes
|
Myoclonus
Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, axial Myoclonus, cervical Myoclonus at rest Myoclonus, action Writer's Cramp Myoclonus,generalized Show more (+6) |
n.a.
|