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