| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
ITA
|
53
|
53
|
n.a.
|
Dystonia, cervical
Seizures Ferritin increased Dystonia (any or unspecified) Other organ iron accumulation Gait impairment Hypomimic face Retinopathy Anemia Iron disadvantage Hypointensity on basal ganglia and or nigra Abnormal central motor function Bradykinesia Diabetes mellitus Show more (+11) |
Dystonia (any or unspecified)
Gait impairment Hypomimic face |