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