| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
IRL
|
2
|
5
|
n.a.
|
Myoclonus, Upper Limb
Dystonia, task-specific Myoclonus at rest Myoclonus,generalized Myoclonus, cervical Myoclonus, axial Dystonia (any or unspecified) Myoclonus Myoclonus, lower limb Dystonia, upper limb Dystonia, lower limb Show more (+8) |
Dystonia, lower limb
|
|
No
|
♂
|
C
|
IRL
|
2
|
28
|
Yes
|
Dystonia, cervical
Myoclonus Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, upper limb Myoclonus, cervical Myoclonus, multifocal Myoclonus, Upper Limb Dystonia, lower limb Myoclonus at rest Dystonia, task-specific Show more (+8) |
Dystonia, lower limb
|
|
No
|
♂
|
C
|
IRL
|
1
|
21
|
Yes
|
Myoclonus, axial
Myoclonus, lower limb Dystonia (any or unspecified) Myoclonus at rest Dystonia, cervical Myoclonus Dystonia, upper limb Myoclonus,generalized Myoclonus, cervical Dystonia, task-specific Myoclonus, Upper Limb Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
GBR
|
1
|
41
|
Yes
|
Myoclonus at rest
Myoclonus,generalized Dystonia, upper limb Myoclonus, lower limb Dystonia (any or unspecified) Dystonia, task-specific Dystonia, lower limb Myoclonus Myoclonus, Upper Limb Dystonia, cervical Myoclonus, cervical Myoclonus, axial Show more (+9) |
Dystonia, lower limb
|
|
Yes
|
♀
|
C
|
IRL
|
2
|
26
|
Yes
|
Myoclonus, Upper Limb
Myoclonus,generalized Myoclonus, action Myoclonus, axial Dystonia, lower limb Myoclonus, lower limb Dystonia, upper limb Dystonia (any or unspecified) Myoclonus Dystonia, cervical Writer's Cramp Myoclonus at rest Dystonia, task-specific Show more (+10) |
Dystonia, lower limb
|
|
No
|
♂
|
C
|
IRL
|
2
|
3
|
Yes
|
Dystonia (any or unspecified)
Myoclonus, lower limb Myoclonus, cervical Myoclonus,generalized Dystonia, lower limb Myoclonus at rest Myoclonus, axial Myoclonus Show more (+5) |
Dystonia, lower limb
|
|
Yes
|
♀
|
C
|
IRL
|
1
|
28
|
Yes
|
Myoclonus, axial
Myoclonus, Upper Limb Dystonia, task-specific Myoclonus, lower limb Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, cervical Myoclonus,generalized Myoclonus at rest Myoclonus Show more (+7) |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
1
|
47
|
Yes
|
Myoclonus
Myoclonus, cervical Dystonia, upper limb Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus,generalized Myoclonus at rest Dystonia, lower limb Myoclonus, axial Dystonia, task-specific Myoclonus, lower limb Show more (+8) |
Dystonia, lower limb
|
|
Yes
|
♀
|
C
|
IRL
|
1
|
9
|
n.a.
|
Myoclonus
Dystonia, upper limb Myoclonus at rest Myoclonus, axial Myoclonus, lower limb Dystonia (any or unspecified) Myoclonus,generalized Dystonia, task-specific Myoclonus, cervical Myoclonus, Upper Limb Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
IRL
|
2
|
11
|
Yes
|
Myoclonus, cervical
Myoclonus Myoclonus at rest Myoclonus, axial Myoclonus,generalized Myoclonus, Upper Limb Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, lower limb Dystonia, task-specific Show more (+7) |
n.a.
|