| 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.
|
Abnormal central motor function
Hypointensity on basal ganglia and or nigra Decreased or absent cerulplasmin Cognitive impairment Dystonia (any or unspecified) Dysarthria Dystonia, lower face Anemia Other mri abnormality Dystonia, craniofacial Spasticity Rigidity Hyperreflexia Ferritin increased Dystonia, focal Diabetes mellitus Retinopathy Dystonia, upper face Iron disadvantage Developmental delay/intellectual disability Other organ iron accumulation Show more (+18) |
Dystonia (any or unspecified)
Rigidity |