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