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