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