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