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