| 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,generalized
Myoclonus, face Myoclonus Myoclonus, axial Myoclonus, Upper Limb Show more (+2) |
Myoclonus, face
Myoclonus, Upper Limb |
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
29
|
Yes
|
Myoclonus, Upper Limb
Myoclonus, face Myoclonus,generalized Myoclonus Sleep benefit Dystonia, upper limb Myoclonus at rest Dystonia (any or unspecified) Myoclonus, action Myoclonus, axial Myoclonus, cervical Dystonia, cervical Show more (+9) |
Myoclonus, face
Myoclonus, axial Myoclonus, cervical |
|
Yes
|
♂
|
n.a.
|
n.a.
|
38
|
41
|
No
|
Myoclonus, lower limb
Myoclonus, Upper Limb Dystonia (any or unspecified) Dystonia, cervical Dystonia, upper limb Tremor (any or unspecified) Myoclonus, multifocal Myoclonus Show more (+5) |
Myoclonus, lower limb
Dystonia, cervical Tremor (any or unspecified) |