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