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