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