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