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