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