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