Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
5
|
Yes
|
Myoclonus, axial
Myoclonus,generalized Myoclonus Dystonia (any or unspecified) Myoclonus, Upper Limb Dystonia, lower limb Show more (+3) |
Myoclonus
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
4
|
n.a.
|
Myoclonus
Dystonia, lower limb Myoclonus,generalized Dystonia, upper limb Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, axial Show more (+4) |
Myoclonus
Dystonia (any or unspecified) |
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
3
|
Yes
|
Dystonia (any or unspecified)
Dystonia, truncal Myoclonus Dystonia, upper limb Myoclonus, Upper Limb Dystonia, cervical Myoclonus, multifocal Show more (+4) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
10
|
Yes
|
Myoclonus, multifocal
Dystonia (any or unspecified) Dystonia, truncal Myoclonus, cervical Dystonia, upper limb Myoclonus Myoclonus, Upper Limb Show more (+4) |
Dystonia (any or unspecified)
Myoclonus |
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
11
|
Yes
|
Dystonia, upper limb
Dystonia, lower limb Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, lower limb Myoclonus, multifocal Dystonia, truncal Myoclonus Show more (+5) |
Dystonia (any or unspecified)
Myoclonus |