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