| 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
Abnormal central motor function Postural instability Dystonia, task-specific Dystonia, generalized Abnormality of skeletal morphology Dystonia (any or unspecified) Ataxia Dysarthria Dystonia, foot Dystonia, arm Dystonic posturing Dystonia, leg Dystonia at rest Dystonia, craniofacial Dystonia, limb Dystonia, lower face Facial grimacing Dysphagia Show more (+16) |
Ataxia
Facial grimacing Dysphagia |