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