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