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