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