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