| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
DNK
|
1
|
40
|
Yes
|
Dystonia, lower limb
Myoclonus, cervical Myoclonus, Upper Limb Myoclonus,generalized Dystonia, upper limb Myoclonus Myoclonus, axial Writer's Cramp Myoclonus, lower limb Dystonia, cervical Myoclonus, multifocal Tremor (any or unspecified) Dystonia, truncal Dystonia (any or unspecified) Show more (+11) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
17
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Myoclonus, multifocal Dystonia, cervical Myoclonus Myoclonus, axial Myoclonus, Upper Limb Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
14
|
n.a.
|
Yes
|
Dystonia, cervical
Myoclonus, Upper Limb Myoclonus, axial Dystonia (any or unspecified) Myoclonus, lower limb Myoclonus Myoclonus, multifocal Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
17
|
n.a.
|
Yes
|
Myoclonus, lower limb
Myoclonus, multifocal Myoclonus, Upper Limb Dystonia, cervical Dystonia (any or unspecified) Myoclonus, cervical Myoclonus Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
DEU
|
14
|
n.a.
|
Yes
|
Myoclonus, multifocal
Tremor (any or unspecified) Myoclonus, Upper Limb Myoclonus Dystonia (any or unspecified) Myoclonus, cervical Dystonia, cervical Myoclonus, lower limb Show more (+5) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
22
|
n.a.
|
Yes
|
Myoclonus, Upper Limb
Myoclonus |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
9
|
n.a.
|
Yes
|
n.a.
|