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