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