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