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