Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
I
|
PAK
|
3
|
16
|
Yes
|
T1 hyperintensities on MRI
Dystonia (any or unspecified) Dystonia, limb Hypermanganesemia Polycythemia Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
No
|
♂
|
I
|
PAK
|
5
|
11
|
Yes
|
Dystonia, limb
Dystonia (any or unspecified) Polycythemia Walking difficulty Hypermanganesemia T1 hyperintensities on MRI 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
|
Dystonia, limb
T1 hyperintensities on MRI Dystonia (any or unspecified) Hypermanganesemia Polycythemia Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
A
|
PHL
|
11
|
12
|
n.a.
|
Polycythemia
T1 hyperintensities on MRI Dystonia (any or unspecified) Walking difficulty Hypermanganesemia Dystonia, limb Show more (+3) |
Walking difficulty
Dystonia, limb |
|
No
|
♀
|
B
|
YEM
|
2
|
4
|
Yes
|
T1 hyperintensities on MRI
Walking difficulty Polycythemia Hypermanganesemia Dystonia (any or unspecified) Dystonia, limb Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
C
|
CAN
|
4
|
12
|
n.a.
|
Hypermanganesemia
Polycythemia T1 hyperintensities on MRI Dystonia, limb Ferritin disadvantage Walking difficulty Dystonia (any or unspecified) Show more (+4) |
Dystonia, limb
Walking difficulty |
|
No
|
♂
|
I
|
PAK
|
5
|
9
|
Yes
|
Dystonia (any or unspecified)
Hypermanganesemia T1 hyperintensities on MRI Polycythemia Dystonia, limb Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
I
|
IND
|
5
|
7
|
n.a.
|
Walking difficulty
Dystonia (any or unspecified) Hypermanganesemia Dystonia, limb Polycythemia T1 hyperintensities on MRI Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
B
|
YEM
|
2
|
12
|
Yes
|
Walking difficulty
Polycythemia Dystonia (any or unspecified) Dystonia, limb Hypermanganesemia T1 hyperintensities on MRI Show more (+3) |
Walking difficulty
Dystonia, limb |