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