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