Quadri, 2015: Overview of all reported DYT/PARK-SLC30A10 patients
| 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)
Dystonia, foot Dystonia, limb Dysarthria Hypermanganesemia Walking difficulty Rigidity Polycythemia T1 hyperintensities on MRI Show more (+6) |
Dystonia, limb
Rigidity |
|
Yes
|
♂
|
I
|
IND
|
3
|
4
|
Yes
|
T1 hyperintensities on MRI
Muscular hypotonia Dystonia (any or unspecified) Dystonia, limb Hypermanganesemia Dystonia, foot Walking difficulty Polycythemia Show more (+5) |
Dystonia, limb
|
|
No
|
♀
|
I
|
IND
|
3
|
3
|
Yes
|
Polycythemia
Dysarthria Dystonia, limb Walking difficulty Dystonia (any or unspecified) Developmental regression Motor delay Dystonia, foot Hypermanganesemia Muscular hypotonia T1 hyperintensities on MRI Show more (+8) |
Dystonia, limb
|
|
Yes
|
♀
|
I
|
IND
|
3
|
15
|
No
|
Polycythemia
Diurnal fluctuations Dystonia, arm Dystonia (any or unspecified) Dystonia, leg Dystonia, limb Dysarthria Dystonia, foot Dystonic posturing T1 hyperintensities on MRI Dystonia, generalized Dystonia, hand Hypermanganesemia Sleep benefit Show more (+11) |
Dystonia, limb
Dystonia, generalized |
|
No
|
♀
|
I
|
IND
|
1
|
5
|
Yes
|
Polycythemia
Dystonia, limb Dystonia, foot T1 hyperintensities on MRI Hypermanganesemia Walking difficulty Dystonia (any or unspecified) Muscular hypotonia Show more (+5) |
Dystonia, limb
|