| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
17
|
No
|
Dystonia, upper limb
Myoclonus at rest Myoclonus, Upper Limb Developmental delay Myoclonus, action Dystonia, task-specific Dystonia, truncal Myoclonus, axial Myoclonus,generalized Dystonia (any or unspecified) Myoclonus, cervical Writer's Cramp Myoclonus Myoclonus, lower limb Dystonia, lower limb Show more (+12) |
Dystonia (any or unspecified)
Myoclonus |
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
12
|
n.a.
|
Tremor (any or unspecified)
Myoclonus, multifocal Dystonia, cervical Myoclonus, action Dystonia (any or unspecified) Writer's Cramp Myoclonus, Upper Limb Myoclonus, lower limb Myoclonus Show more (+6) |
Myoclonus
|