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