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