| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
30
|
No
|
Dystonia, upper limb
Myoclonus, multifocal Anxiety panic attacks Myoclonus, cervical Dystonia, cervical Dystonia (any or unspecified) Myoclonus Myoclonus, Upper Limb Show more (+5) |
Dystonia, upper limb
Dystonia, cervical |
|
Yes
|
♂
|
n.a.
|
n.a.
|
19
|
51
|
n.a.
|
Depression
Dystonia (any or unspecified) Dystonia, cervical Obssesive Compulsive Disorder Show more (+1) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
30
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
66
|
No
|
Myoclonus
Myoclonus, multifocal Myoclonus,generalized Myoclonus, axial Dystonia, cervical Dystonia, upper limb Dystonia (any or unspecified) Myoclonus, cervical Myoclonus, Upper Limb Show more (+6) |
Dystonia, upper limb
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
8
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
70
|
Yes
|
Dystonia, upper limb
Dystonia (any or unspecified) Dystonia, cervical Myoclonus, Upper Limb Myoclonus Myoclonus, lower limb Myoclonus, multifocal Dystonia, lower limb Show more (+5) |
Dystonia (any or unspecified)
Myoclonus |
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
33
|
Yes
|
Myoclonus, Upper Limb
Myoclonus,generalized Dystonia (any or unspecified) Myoclonus Myoclonus, lower limb Dystonia, cervical Myoclonus, axial Dystonia, upper limb Show more (+5) |
Myoclonus, Upper Limb
Myoclonus, lower limb |
|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
75
|
No
|
Myoclonus
Myoclonus,generalized Myoclonus, cervical Myoclonus, lower limb Dystonia (any or unspecified) Myoclonus, axial Anxiety panic attacks Myoclonus, Upper Limb Dystonia, upper limb Show more (+6) |
Myoclonus
Dystonia (any or unspecified) |