Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
NLD
|
17
|
23
|
Yes
|
Myoclonus, Upper Limb
Myoclonus, cervical Myoclonus Cognitive impairment Depression Dystonia (any or unspecified) Myoclonus, face Dystonia, cervical Myoclonus,generalized Dystonia, truncal Myoclonus, axial Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
NLD
|
15
|
43
|
Yes
|
Myoclonus, face
Dystonia, cervical Dystonia (any or unspecified) Myoclonus Dystonia, truncal Show more (+2) |
n.a.
|
|
No
|
♂
|
C
|
NLD
|
15
|
39
|
Yes
|
Dystonia (any or unspecified)
Anxiety panic attacks Myoclonus, face Dystonia, truncal Myoclonus, cervical Myoclonus Dystonia, cervical Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
NLD
|
17
|
47
|
Yes
|
Dystonia, truncal
Depression Myoclonus, cervical Myoclonus, Upper Limb Myoclonus, face Myoclonus Dystonia (any or unspecified) Myoclonus, multifocal Cognitive impairment Dystonia, cervical Show more (+7) |
n.a.
|