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