| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
38
|
Yes
|
Myoclonus, multifocal
Myoclonus, Upper Limb Writer's Cramp Myoclonus, action Dystonia, upper limb Dystonia (any or unspecified) Dystonia, task-specific Myoclonus Show more (+5) |
Myoclonus, Upper Limb
|
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
8
|
Yes
|
Myoclonus, lower limb
Myoclonus, face Myoclonus, multifocal Dystonia (any or unspecified) Myoclonus, cervical Myoclonus Myoclonus, Upper Limb Dystonia, upper limb Show more (+5) |
Myoclonus, lower limb
Myoclonus, cervical Myoclonus, Upper Limb |
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
Yes
|
Myoclonus, action
Dystonia, upper limb Myoclonus Myoclonus, Upper Limb Myoclonus, lower limb Dystonia (any or unspecified) Myoclonus, multifocal Dystonia, lower limb Show more (+5) |
Myoclonus, Upper Limb
Myoclonus, lower limb |
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
3
|
Yes
|
Myoclonus, action
Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus Myoclonus, lower limb Dystonia, upper limb Dystonia, lower limb Myoclonus, multifocal Show more (+5) |
Myoclonus, Upper Limb
Myoclonus, lower limb |
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
25
|
Yes
|
Dystonia (any or unspecified)
Writer's Cramp Dystonia, task-specific Myoclonus, action Myoclonus, lower limb Myoclonus Dystonia, upper limb Myoclonus, cervical Myoclonus, multifocal Myoclonus, Upper Limb Show more (+7) |
Myoclonus, cervical
Myoclonus, Upper Limb |
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
23
|
Yes
|
Dystonia (any or unspecified)
Myoclonus, Upper Limb Myoclonus, lower limb Myoclonus, cervical Myoclonus, multifocal Myoclonus, action Dystonia, task-specific Dystonia, upper limb Myoclonus Writer's Cramp Show more (+7) |
Myoclonus, Upper Limb
Myoclonus, cervical |
|
No
|
♀
|
n.a.
|
n.a.
|
2
|
5
|
Yes
|
Myoclonus, multifocal
Dystonia, upper limb Myoclonus, lower limb Myoclonus, face Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus Myoclonus, cervical Show more (+5) |
Myoclonus, lower limb
Myoclonus, Upper Limb Myoclonus, cervical |
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
37
|
Yes
|
Myoclonus, Upper Limb
Dystonia, upper limb Myoclonus, cervical Dystonia (any or unspecified) Myoclonus Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
29
|
Yes
|
Myoclonus, action
Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, multifocal Myoclonus, Upper Limb Myoclonus Myoclonus,generalized Dystonia, task-specific Writer's Cramp Myoclonus, axial Show more (+7) |
Myoclonus, Upper Limb
|