| 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, lower limb
Myoclonus, lower limb Myoclonus, action Developmental delay Myoclonus,generalized Myoclonus, axial Myoclonus at rest Dystonia, task-specific Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, Upper Limb Dystonia, truncal Myoclonus Writer's Cramp Myoclonus, cervical Show more (+12) |
Dystonia (any or unspecified)
Myoclonus |
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
12
|
n.a.
|
Myoclonus
Myoclonus, Upper Limb Myoclonus, multifocal Dystonia (any or unspecified) Myoclonus, lower limb Myoclonus, action Writer's Cramp Dystonia, cervical Tremor (any or unspecified) Show more (+6) |
Myoclonus
|