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