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