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