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