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