Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
SRB
|
9
|
n.a.
|
Yes
|
Myoclonus, cervical
Dystonia, cervical Dystonia (any or unspecified) Myoclonus Myoclonus, Upper Limb Myoclonus, multifocal Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
SRB
|
15
|
n.a.
|
Yes
|
Myoclonus, Upper Limb
Myoclonus |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
4
|
n.a.
|
Yes
|
Myoclonus, cervical
Dystonia (any or unspecified) Myoclonus, multifocal Dystonia, cervical Myoclonus, Upper Limb Myoclonus Dystonia, lower limb Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
12
|
n.a.
|
Yes
|
Dystonia, upper limb
Myoclonus, multifocal Dystonia, cervical Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus Show more (+3) |
n.a.
|
|
Yes
|
♀
|
C
|
SRB
|
7
|
n.a.
|
Yes
|
Myoclonus, multifocal
Myoclonus Myoclonus, Upper Limb |
n.a.
|