| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
BEL
|
57
|
59
|
No
|
Dystonia, jaw
Hypointensity on basal ganglia and or nigra Diabetes mellitus Dystonia, oromandibular Retinopathy Dystonia, upper face Anemia Dystonia, craniofacial Ferritin increased Abnormal central motor function Decreased or absent cerulplasmin Dystonia, lower face Dystonia (any or unspecified) Other mri abnormality Other organ iron accumulation Dystonia, focal Show more (+13) |
Dystonia (any or unspecified)
|