Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
JPN
|
2
|
11
|
n.a.
|
Dystonia, foot
Facial grimacing Mri brain abnormality Dysarthria Dystonia, leg Dystonia at rest Dystonia, task-specific Abnormal central motor function Dysphagia Ataxia Dystonic posturing Dystonia, arm Abnormality of skeletal morphology Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, generalized Dystonia, lower face Postural instability Dystonia, limb Show more (+16) |
Facial grimacing
Dysphagia Ataxia |