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