Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
14
|
52
|
Yes
|
Myoclonus, Upper Limb
Myoclonus, face Myoclonus,generalized Myoclonus, axial Myoclonus Show more (+2) |
Myoclonus, Upper Limb
Myoclonus, face |
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
29
|
Yes
|
Myoclonus
Myoclonus at rest Myoclonus, cervical Myoclonus,generalized Dystonia, cervical Dystonia (any or unspecified) Myoclonus, action Myoclonus, axial Myoclonus, Upper Limb Myoclonus, face Sleep benefit Dystonia, upper limb Show more (+9) |
Myoclonus, cervical
Myoclonus, axial Myoclonus, face |
|
Yes
|
♂
|
n.a.
|
n.a.
|
38
|
41
|
No
|
Tremor (any or unspecified)
Dystonia, cervical Myoclonus Myoclonus, Upper Limb Dystonia, upper limb Myoclonus, lower limb Myoclonus, multifocal Dystonia (any or unspecified) Show more (+5) |
Tremor (any or unspecified)
Dystonia, cervical Myoclonus, lower limb |