| 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
Myoclonus, action Myoclonus, Upper Limb Myoclonus, multifocal Dystonia, task-specific Dystonia (any or unspecified) Writer's Cramp Dystonia, upper limb Show more (+5) |
Myoclonus, Upper Limb
|
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
8
|
Yes
|
Myoclonus, face
Myoclonus, multifocal Myoclonus, lower limb Dystonia (any or unspecified) Myoclonus, Upper Limb Dystonia, upper limb Myoclonus Myoclonus, cervical Show more (+5) |
Myoclonus, lower limb
Myoclonus, Upper Limb Myoclonus, cervical |
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
Yes
|
Myoclonus, lower limb
Myoclonus Dystonia, lower limb Dystonia, upper limb Dystonia (any or unspecified) Myoclonus, Upper Limb Myoclonus, multifocal Myoclonus, action Show more (+5) |
Myoclonus, lower limb
Myoclonus, Upper Limb |
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
3
|
Yes
|
Myoclonus, lower limb
Myoclonus, action Myoclonus Dystonia, upper limb Myoclonus, multifocal Dystonia (any or unspecified) Myoclonus, Upper Limb Dystonia, lower limb Show more (+5) |
Myoclonus, lower limb
Myoclonus, Upper Limb |
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
25
|
Yes
|
Myoclonus, action
Myoclonus, lower limb Myoclonus Dystonia, task-specific Myoclonus, cervical Dystonia, upper limb Writer's Cramp Myoclonus, multifocal Dystonia (any or unspecified) Myoclonus, Upper Limb Show more (+7) |
Myoclonus, cervical
Myoclonus, Upper Limb |
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
23
|
Yes
|
Myoclonus, cervical
Dystonia (any or unspecified) Writer's Cramp Myoclonus Myoclonus, action Dystonia, upper limb Myoclonus, Upper Limb Dystonia, task-specific Myoclonus, lower limb Myoclonus, multifocal Show more (+7) |
Myoclonus, cervical
Myoclonus, Upper Limb |
|
No
|
♀
|
n.a.
|
n.a.
|
2
|
5
|
Yes
|
Myoclonus, face
Myoclonus, cervical Myoclonus, lower limb Dystonia, upper limb Myoclonus, Upper Limb Myoclonus Myoclonus, multifocal Dystonia (any or unspecified) Show more (+5) |
Myoclonus, cervical
Myoclonus, lower limb Myoclonus, Upper Limb |
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
37
|
Yes
|
Dystonia (any or unspecified)
Myoclonus Dystonia, upper limb Myoclonus, Upper Limb Myoclonus, cervical Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
29
|
Yes
|
Myoclonus,generalized
Myoclonus, Upper Limb Myoclonus Dystonia, task-specific Dystonia, upper limb Myoclonus, multifocal Myoclonus, axial Dystonia (any or unspecified) Writer's Cramp Myoclonus, action Show more (+7) |
Myoclonus, Upper Limb
|