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