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