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