Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
I
|
PAK
|
3
|
16
|
Yes
|
Polycythemia
Dystonia (any or unspecified) Walking difficulty Dystonia, limb Hypermanganesemia T1 hyperintensities on MRI Show more (+3) |
Walking difficulty
Dystonia, limb |
|
No
|
♂
|
I
|
PAK
|
5
|
11
|
Yes
|
Dystonia, limb
T1 hyperintensities on MRI Dystonia (any or unspecified) Hypermanganesemia Polycythemia Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
No
|
♀
|
B
|
YEM
|
2
|
8
|
Yes
|
Dystonia, limb
Hypermanganesemia Polycythemia T1 hyperintensities on MRI Dystonia (any or unspecified) Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
O
|
BRA
|
3
|
24
|
Yes
|
Walking difficulty
Dystonia, limb Hypermanganesemia Dystonia (any or unspecified) T1 hyperintensities on MRI Polycythemia Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
A
|
PHL
|
11
|
12
|
n.a.
|
Polycythemia
T1 hyperintensities on MRI Walking difficulty Dystonia (any or unspecified) Dystonia, limb Hypermanganesemia Show more (+3) |
Walking difficulty
Dystonia, limb |
|
No
|
♀
|
B
|
YEM
|
2
|
4
|
Yes
|
Dystonia (any or unspecified)
Hypermanganesemia T1 hyperintensities on MRI Walking difficulty Dystonia, limb Polycythemia Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
C
|
CAN
|
4
|
12
|
n.a.
|
Hypermanganesemia
Dystonia (any or unspecified) Walking difficulty Polycythemia Ferritin disadvantage T1 hyperintensities on MRI Dystonia, limb Show more (+4) |
Walking difficulty
Dystonia, limb |
|
No
|
♂
|
I
|
PAK
|
5
|
9
|
Yes
|
Dystonia, limb
Walking difficulty T1 hyperintensities on MRI Dystonia (any or unspecified) Polycythemia Hypermanganesemia Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
I
|
IND
|
5
|
7
|
n.a.
|
Dystonia (any or unspecified)
Walking difficulty Polycythemia Hypermanganesemia T1 hyperintensities on MRI Dystonia, limb Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
B
|
YEM
|
2
|
12
|
Yes
|
Polycythemia
Dystonia, limb Walking difficulty Dystonia (any or unspecified) T1 hyperintensities on MRI Hypermanganesemia Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
I
|
PAK
|
3
|
18
|
Yes
|
Hypermanganesemia
T1 hyperintensities on MRI Polycythemia Dystonia (any or unspecified) Dystonia, limb Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
B
|
ARE
|
2
|
21
|
Yes
|
Dystonia, leg
Hypermanganesemia Dystonia (any or unspecified) Walking difficulty Dystonic posturing Rigidity Polycythemia Dystonia, generalized Dystonia, limb Dystonia, foot Microcephaly Dystonia, hand T1 hyperintensities on MRI Show more (+10) |
Rigidity
Dystonia, generalized |
|
Yes
|
♂
|
C
|
USA
|
14
|
37
|
n.a.
|
Spasticity
Iron disadvantage Polycythemia Hyperreflexia Ferritin disadvantage Delayed speech and language development T1 hyperintensities on MRI Hypermanganesemia Spastic paraparesis Show more (+6) |
Spasticity
Spastic paraparesis |