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