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