| 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 Myoclonus, cervical Myoclonus at rest Dystonia, truncal Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, action Myoclonus, multifocal Dystonia, upper limb Show more (+7) |
Myoclonus, Upper Limb
|
|
Yes
|
♀
|
O
|
WSM
|
2
|
n.a.
|
Yes
|
Dystonia, task-specific
Dystonia (any or unspecified) Dystonia, lower limb Dystonia, cervical Dystonia, truncal Myoclonus, Upper Limb Dystonia, upper limb Myoclonus, action Anxiety panic attacks Myoclonus Depression Myoclonus, multifocal Developmental regression Myoclonus at rest Show more (+11) |
Myoclonus, Upper Limb
|