| 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
Dystonia (any or unspecified) Myoclonus, lower limb Myoclonus at rest Dystonia, task-specific Myoclonus, cervical Dystonia, upper limb Myoclonus Myoclonus,generalized Myoclonus, Upper Limb Dystonia, lower limb Show more (+8) |
Dystonia, lower limb
|
|
No
|
♂
|
C
|
IRL
|
2
|
28
|
Yes
|
Myoclonus
Myoclonus at rest Myoclonus, multifocal Dystonia, task-specific Tremor (any or unspecified) Myoclonus, cervical Dystonia, cervical Dystonia (any or unspecified) Dystonia, lower limb Dystonia, upper limb Myoclonus, Upper Limb Show more (+8) |
Dystonia, lower limb
|
|
No
|
♂
|
C
|
IRL
|
1
|
21
|
Yes
|
Myoclonus, cervical
Myoclonus,generalized Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, axial Myoclonus, lower limb Dystonia, cervical Dystonia, upper limb Myoclonus at rest Dystonia, task-specific Myoclonus Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
GBR
|
1
|
41
|
Yes
|
Dystonia (any or unspecified)
Myoclonus, lower limb Dystonia, upper limb Myoclonus at rest Myoclonus,generalized Dystonia, cervical Dystonia, task-specific Myoclonus, Upper Limb Dystonia, lower limb Myoclonus, cervical Myoclonus Myoclonus, axial Show more (+9) |
Dystonia, lower limb
|
|
Yes
|
♀
|
C
|
IRL
|
2
|
26
|
Yes
|
Dystonia, task-specific
Myoclonus at rest Dystonia (any or unspecified) Dystonia, upper limb Myoclonus Myoclonus, Upper Limb Myoclonus,generalized Myoclonus, axial Myoclonus, lower limb Writer's Cramp Dystonia, lower limb Myoclonus, action Dystonia, cervical Show more (+10) |
Dystonia, lower limb
|
|
No
|
♂
|
C
|
IRL
|
2
|
3
|
Yes
|
Myoclonus
Myoclonus,generalized Dystonia (any or unspecified) Dystonia, lower limb Myoclonus, cervical Myoclonus, axial Myoclonus, lower limb Myoclonus at rest Show more (+5) |
Dystonia, lower limb
|
|
Yes
|
♀
|
C
|
IRL
|
1
|
28
|
Yes
|
Dystonia, upper limb
Myoclonus,generalized Myoclonus Myoclonus, cervical Myoclonus, axial Myoclonus, Upper Limb Myoclonus at rest Myoclonus, lower limb Dystonia (any or unspecified) Dystonia, task-specific Show more (+7) |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
1
|
47
|
Yes
|
Myoclonus
Myoclonus at rest Dystonia, task-specific Dystonia (any or unspecified) Myoclonus, axial Myoclonus, Upper Limb Dystonia, lower limb Myoclonus, lower limb Myoclonus,generalized Dystonia, upper limb Myoclonus, cervical Show more (+8) |
Dystonia, lower limb
|
|
Yes
|
♀
|
C
|
IRL
|
1
|
9
|
n.a.
|
Dystonia, upper limb
Dystonia (any or unspecified) Myoclonus Myoclonus at rest Myoclonus, cervical Myoclonus, Upper Limb Myoclonus, lower limb Myoclonus, axial Dystonia, task-specific Myoclonus,generalized Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
IRL
|
2
|
11
|
Yes
|
Myoclonus
Myoclonus, lower limb Myoclonus at rest Myoclonus, axial Dystonia, task-specific Dystonia (any or unspecified) Myoclonus,generalized Myoclonus, cervical Dystonia, upper limb Myoclonus, Upper Limb Show more (+7) |
n.a.
|