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