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