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