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