| 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, lower limb Myoclonus Dystonia, cervical Dystonia, upper limb Myoclonus,generalized Dystonia (any or unspecified) Myoclonus, cervical Myoclonus, face Myoclonus, axial Dystonia, truncal Myoclonus, lower limb Show more (+9) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
28
|
Yes
|
Myoclonus, axial
Depression Myoclonus, lower limb Dystonia, upper limb Dystonia (any or unspecified) Myoclonus,generalized Dystonia, task-specific Myoclonus, Upper Limb Myoclonus Writer's Cramp Autonomic sign/sympt. Myoclonus at rest Myoclonus, face Myoclonus, cervical Show more (+11) |
Myoclonus, face
|