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