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, cervical
Dystonia (any or unspecified) Developmental delay Myoclonus, axial Myoclonus,generalized Cognitive impairment Muscular hypotonia Dystonia, task-specific Myoclonus, action Myoclonus, cervical Anxiety panic attacks Myoclonus at rest Writer's Cramp Myoclonus Show more (+11) |
Myoclonus,generalized
|