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