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