| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
O
|
AUS
|
4
|
n.a.
|
No
|
Myoclonus, action
Myoclonus, multifocal Myoclonus, cervical Dystonia, task-specific Myoclonus, Upper Limb Dystonia (any or unspecified) Dystonia, truncal Myoclonus at rest Myoclonus Dystonia, upper limb Show more (+7) |
Myoclonus, Upper Limb
|
|
Yes
|
♀
|
O
|
WSM
|
2
|
n.a.
|
Yes
|
Developmental regression
Dystonia (any or unspecified) Dystonia, truncal Anxiety panic attacks Myoclonus Myoclonus at rest Depression Dystonia, task-specific Myoclonus, multifocal Dystonia, lower limb Myoclonus, Upper Limb Dystonia, cervical Dystonia, upper limb Myoclonus, action Show more (+11) |
Myoclonus, Upper Limb
|