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