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