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