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