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