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