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