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