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