| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
34
|
Yes
|
Anxiety panic attacks
Developmental regression Myoclonus, cervical Myoclonus, Upper Limb Dystonia, truncal Myoclonus, lower limb Obssesive Compulsive Disorder Depression Dystonia, task-specific Cognitive impairment Dystonia (any or unspecified) Myoclonus Developmental delay Tremor (any or unspecified) Myoclonus,generalized Myoclonus, axial Show more (+13) |
Myoclonus, Upper Limb
Myoclonus, lower limb Myoclonus, axial |