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