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