| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
51
|
63
|
n.a.
|
Dystonia, upper face
Spasticity Other mri abnormality Dystonia (any or unspecified) Dysarthria Hypointensity on basal ganglia and or nigra Anemia Decreased or absent cerulplasmin Cognitive impairment Ferritin increased Developmental delay/intellectual disability Dystonia, focal Iron disadvantage Dystonia, craniofacial Abnormal central motor function Other organ iron accumulation Retinopathy Dystonia, lower face Rigidity Diabetes mellitus Hyperreflexia Show more (+18) |
Dystonia (any or unspecified)
Rigidity |