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