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