| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
14
|
52
|
Yes
|
Myoclonus, Upper Limb
Myoclonus,generalized Myoclonus, axial Myoclonus Myoclonus, face Show more (+2) |
Myoclonus, Upper Limb
Myoclonus, face |
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
29
|
Yes
|
Myoclonus, face
Myoclonus Dystonia, cervical Myoclonus, axial Myoclonus at rest Dystonia, upper limb Myoclonus,generalized Sleep benefit Myoclonus, action Dystonia (any or unspecified) Myoclonus, cervical Myoclonus, Upper Limb Show more (+9) |
Myoclonus, face
Myoclonus, axial Myoclonus, cervical |
|
Yes
|
♂
|
n.a.
|
n.a.
|
38
|
41
|
No
|
Dystonia, cervical
Myoclonus, lower limb Myoclonus, Upper Limb Dystonia, upper limb Myoclonus, multifocal Tremor (any or unspecified) Dystonia (any or unspecified) Myoclonus Show more (+5) |
Dystonia, cervical
Myoclonus, lower limb Tremor (any or unspecified) |