| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
I
|
PAK
|
3
|
18
|
Yes
|
Walking difficulty
Dystonia (any or unspecified) Hypermanganesemia Dystonia, limb Polycythemia T1 hyperintensities on MRI Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
B
|
ARE
|
2
|
21
|
Yes
|
Dystonia, hand
Hypermanganesemia Dystonia, foot Polycythemia Microcephaly Dystonia, generalized Dystonia, limb Rigidity Dystonia (any or unspecified) Walking difficulty Dystonia, leg Dystonic posturing T1 hyperintensities on MRI Show more (+10) |
Dystonia, generalized
Rigidity |
|
Yes
|
♂
|
C
|
USA
|
14
|
37
|
n.a.
|
Delayed speech and language development
Iron disadvantage Spastic paraparesis Spasticity Hyperreflexia Ferritin disadvantage Hypermanganesemia Polycythemia T1 hyperintensities on MRI Show more (+6) |
Spastic paraparesis
Spasticity |