Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
17
|
No
|
Dystonia, lower limb
Myoclonus, axial Myoclonus,generalized Myoclonus, lower limb Dystonia, truncal Myoclonus Writer's Cramp Myoclonus, Upper Limb Developmental delay Dystonia, task-specific Myoclonus at rest Dystonia (any or unspecified) Myoclonus, cervical Dystonia, upper limb Myoclonus, action Show more (+12) |
Myoclonus
Dystonia (any or unspecified) |
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
12
|
n.a.
|
Writer's Cramp
Myoclonus, multifocal Dystonia (any or unspecified) Dystonia, cervical Myoclonus, action Myoclonus, lower limb Myoclonus Myoclonus, Upper Limb Tremor (any or unspecified) Show more (+6) |
Myoclonus
|