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