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