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