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