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, cervical
Myoclonus Dystonia, upper limb Myoclonus, lower limb Myoclonus, action Myoclonus, face Myoclonus,generalized Dystonia (any or unspecified) Myoclonus, axial Dystonia, cervical Myoclonus, Upper Limb Dystonia, truncal Myoclonus at rest Show more (+10) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
5
|
28
|
Yes
|
Myoclonus, action
Myoclonus, cervical Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, lower limb Myoclonus Dystonia, truncal Dystonia, cervical Dystonia, upper limb Myoclonus, axial Myoclonus, face Myoclonus,generalized 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
|
Dystonia, upper limb
Myoclonus, axial Myoclonus at rest Myoclonus Myoclonus, cervical Myoclonus, action Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus,generalized Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
3
|
Yes
|
Myoclonus, cervical
Myoclonus, axial Myoclonus, Upper Limb Myoclonus Myoclonus, multifocal Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
1
|
21
|
Yes
|
Myoclonus
Myoclonus,generalized Myoclonus, action Myoclonus, axial Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, cervical Myoclonus, Upper Limb Dystonia, cervical Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
25
|
Yes
|
Myoclonus, axial
Myoclonus, Upper Limb Myoclonus,generalized Myoclonus, action Myoclonus Myoclonus, cervical Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
3
|
8
|
Yes
|
Myoclonus at rest
Myoclonus, face Myoclonus, Upper Limb Myoclonus, cervical Writer's Cramp Myoclonus, action Dystonia (any or unspecified) Myoclonus Myoclonus,generalized Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
18
|
Yes
|
Dystonia, cervical
Myoclonus, axial Myoclonus Myoclonus, Upper Limb Dystonia (any or unspecified) Dystonia, upper limb Myoclonus,generalized Myoclonus, cervical Myoclonus, action Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
B
|
MAR
|
4
|
15
|
Yes
|
Writer's Cramp
Myoclonus,generalized Dystonia (any or unspecified) Myoclonus at rest Myoclonus, Upper Limb Myoclonus Myoclonus, cervical Myoclonus, axial Myoclonus, action Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
2
|
19
|
Yes
|
Myoclonus,generalized
Myoclonus Myoclonus, action Myoclonus, Upper Limb Myoclonus, lower limb Myoclonus, axial Myoclonus, cervical Myoclonus, face Show more (+5) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
12
|
41
|
Yes
|
Myoclonus, multifocal
Myoclonus, cervical Myoclonus, face Obssesive Compulsive Disorder Myoclonus, Upper Limb Myoclonus Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
6
|
47
|
Yes
|
Dystonia (any or unspecified)
Writer's Cramp |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
2
|
8
|
No
|
Dystonia, upper limb
Myoclonus, cervical Dystonia (any or unspecified) Myoclonus, multifocal Myoclonus Myoclonus, Upper Limb Myoclonus, action Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
6
|
14
|
Yes
|
Myoclonus, multifocal
Myoclonus, cervical Myoclonus Myoclonus, action Myoclonus, Upper Limb Show more (+2) |
n.a.
|