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