Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
DNK
|
0
|
22
|
Yes
|
Dystonia, upper limb
Myoclonus, axial Myoclonus, Upper Limb Myoclonus,generalized Dystonia, task-specific Myoclonus, lower limb Dystonia (any or unspecified) Writer's Cramp Myoclonus, cervical Myoclonus Show more (+7) |
Myoclonus, Upper Limb
Myoclonus, lower limb Myoclonus, cervical |
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
30
|
Yes
|
Dystonia, upper limb
Dystonia, task-specific Myoclonus, cervical Depression Writer's Cramp Myoclonus, Upper Limb Myoclonus Myoclonus, axial Dystonia (any or unspecified) Dystonia, cervical Myoclonus,generalized Show more (+8) |
Myoclonus, cervical
Myoclonus, Upper Limb |
|
No
|
♀
|
C
|
DNK
|
0
|
47
|
Yes
|
Myoclonus, axial
Myoclonus, lower limb Myoclonus Dystonia (any or unspecified) Dystonia, task-specific Myoclonus, cervical Myoclonus,generalized Myoclonus, Upper Limb Dystonia, upper limb Writer's Cramp Show more (+7) |
Myoclonus, lower limb
Myoclonus, cervical Myoclonus, Upper Limb |