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