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