Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
NLD
|
17
|
27
|
Yes
|
Myoclonus, cervical
Myoclonus,generalized Myoclonus, axial Dystonia (any or unspecified) Dystonia, cervical Myoclonus Myoclonus, Upper Limb Dystonia, truncal Myoclonus, lower limb Show more (+6) |
Myoclonus, cervical
Dystonia, cervical |
|
Yes
|
♀
|
C
|
NLD
|
10
|
27
|
Yes
|
Dystonia (any or unspecified)
Dystonia, cervical Myoclonus, multifocal Dystonia, truncal Myoclonus Myoclonus, axial Myoclonus, cervical Show more (+4) |
Dystonia, cervical
Myoclonus, cervical |
|
Yes
|
♂
|
C
|
NLD
|
8
|
47
|
Yes
|
Dystonia, lower limb
Myoclonus Myoclonus, Upper Limb Myoclonus,generalized Myoclonus, axial Dystonia, truncal Dystonia (any or unspecified) Myoclonus, lower limb Show more (+5) |
Myoclonus, Upper Limb
Dystonia (any or unspecified) Myoclonus, lower limb |
|
Yes
|
♀
|
C
|
BEL
|
1
|
39
|
Yes
|
Dystonia (any or unspecified)
Myoclonus Myoclonus, Upper Limb Dystonia, lower limb Myoclonus,generalized Dystonia, truncal Dystonia, upper limb Myoclonus, axial Dystonia, cervical Myoclonus, lower limb Show more (+7) |
Myoclonus, Upper Limb
Myoclonus, axial Dystonia, cervical |
|
Yes
|
♂
|
C
|
NLD
|
7
|
19
|
No
|
Myoclonus, axial
Dystonia, cervical Myoclonus Myoclonus, cervical Myoclonus, Upper Limb Myoclonus,generalized Dystonia (any or unspecified) Show more (+4) |
Myoclonus, axial
Dystonia, cervical Myoclonus, cervical |
|
Yes
|
♂
|
C
|
NLD
|
11
|
47
|
Yes
|
Myoclonus
Myoclonus, cervical Myoclonus,generalized Depression Myoclonus, lower limb Myoclonus, axial Dystonia, cervical Myoclonus, Upper Limb Dystonia (any or unspecified) Show more (+6) |
Myoclonus, cervical
Dystonia, cervical |
|
Yes
|
♀
|
C
|
NLD
|
16
|
43
|
Yes
|
Myoclonus, multifocal
Myoclonus, lower limb Dystonia, truncal Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, Upper Limb Myoclonus Myoclonus, cervical Dystonia, cervical Show more (+6) |
Myoclonus, cervical
Dystonia, cervical |