Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
21
|
Yes
|
Cognitive impairment
Anxiety panic attacks Developmental delay Dystonia, task-specific Myoclonus Myoclonus,generalized Myoclonus at rest Muscular hypotonia Writer's Cramp Myoclonus, axial Myoclonus, cervical Dystonia, cervical Myoclonus, action Dystonia (any or unspecified) Show more (+11) |
Myoclonus,generalized
|