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