Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
I
|
IND
|
4
|
5
|
No
|
Dystonia (any or unspecified)
Dysarthria Polycythemia Rigidity Dystonia, limb T1 hyperintensities on MRI Hypermanganesemia Walking difficulty Dystonia, foot Show more (+6) |
Rigidity
Dystonia, limb |
|
Yes
|
♂
|
I
|
IND
|
3
|
4
|
Yes
|
Dystonia (any or unspecified)
Hypermanganesemia Dystonia, foot Muscular hypotonia Polycythemia Dystonia, limb Walking difficulty T1 hyperintensities on MRI Show more (+5) |
Dystonia, limb
|
|
No
|
♀
|
I
|
IND
|
3
|
3
|
Yes
|
Hypermanganesemia
Dystonia (any or unspecified) Dysarthria T1 hyperintensities on MRI Walking difficulty Muscular hypotonia Dystonia, limb Dystonia, foot Developmental regression Polycythemia Motor delay Show more (+8) |
Dystonia, limb
|
|
Yes
|
♀
|
I
|
IND
|
3
|
15
|
No
|
Dystonia (any or unspecified)
Dystonic posturing Dystonia, leg Hypermanganesemia T1 hyperintensities on MRI Dystonia, limb Dysarthria Sleep benefit Polycythemia Dystonia, generalized Diurnal fluctuations Dystonia, foot Dystonia, hand Dystonia, arm Show more (+11) |
Dystonia, limb
Dystonia, generalized |
|
No
|
♀
|
I
|
IND
|
1
|
5
|
Yes
|
Hypermanganesemia
Dystonia, foot Polycythemia Walking difficulty Dystonia, limb Muscular hypotonia Dystonia (any or unspecified) T1 hyperintensities on MRI Show more (+5) |
Dystonia, limb
|