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