| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
n.a.
|
25
|
Yes
|
Myoclonus, Upper Limb
Dystonia, cervical Myoclonus, cervical Myoclonus, face Myoclonus, lower limb Myoclonus Dystonia, truncal Dystonia (any or unspecified) Dystonia, lower limb Myoclonus,generalized Myoclonus, axial Dystonia, upper limb Show more (+9) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
28
|
Yes
|
Autonomic sign/sympt.
Dystonia, upper limb Dystonia (any or unspecified) Dystonia, task-specific Myoclonus,generalized Myoclonus at rest Myoclonus, cervical Depression Writer's Cramp Myoclonus Myoclonus, axial Myoclonus, face Myoclonus, lower limb Myoclonus, Upper Limb Show more (+11) |
Myoclonus, face
|