| 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, truncal
Myoclonus, Upper Limb Developmental delay Obssesive Compulsive Disorder Myoclonus Tremor (any or unspecified) Myoclonus,generalized Myoclonus, lower limb Developmental regression Myoclonus, axial Dystonia, task-specific Depression Anxiety panic attacks Dystonia (any or unspecified) Myoclonus, cervical Cognitive impairment Show more (+13) |
Myoclonus, Upper Limb
Myoclonus, lower limb Myoclonus, axial |