Zaki, 2018: Overview of all reported DYT/PARK-SLC30A10 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
EGY
|
1
|
3
|
Yes
|
Dystonia, focal
Dystonia, leg Rigidity Dystonia, limb Anarthria Delayed gross motor development Ferritin disadvantage Dystonia (any or unspecified) T1 hyperintensities on MRI Hypomimia Delayed speech and language development Bradykinesia Parkinsonism Dystonia, arm Motor delay Hypermanganesemia Polycythemia Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
EGY
|
1
|
12
|
Yes
|
Rigidity
Dysarthria Dystonia, leg Bradykinesia Ferritin disadvantage T1 hyperintensities on MRI Dystonia, focal Parkinsonism Dystonia, arm Dystonia, limb Motor delay Delayed gross motor development Dystonia (any or unspecified) Hypomimia Polycythemia Delayed speech and language development Hypermanganesemia Show more (+14) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
EGY
|
10
|
17
|
Yes
|
Hypermanganesemia
Dystonia (any or unspecified) Dystonia, focal Bradykinesia Ferritin disadvantage Motor delay Dystonia, limb Rigidity Parkinsonism Hypomimia Dystonia, leg Delayed gross motor development Polycythemia Dysarthria T1 hyperintensities on MRI Show more (+12) |
Dystonia, leg
|
|
No
|
♀
|
n.a.
|
EGY
|
1
|
2
|
Yes
|
Hypomimia
Delayed gross motor development Dystonia, arm Delayed speech and language development Dystonia (any or unspecified) Dystonia, focal Anarthria Ferritin disadvantage Dystonia, limb Rigidity T1 hyperintensities on MRI Motor delay Hypermanganesemia Parkinsonism Bradykinesia Dystonia, leg Polycythemia Show more (+14) |
n.a.
|
|
No
|
♂
|
n.a.
|
EGY
|
2
|
10
|
Yes
|
Hypermanganesemia
Motor delay Ferritin disadvantage Delayed speech and language development Anarthria Delayed gross motor development Dystonia, foot Parkinsonism Hypomimia T1 hyperintensities on MRI Bradykinesia Dystonia, limb Rigidity Cognitive impairment Dystonia, leg Dystonia (any or unspecified) Dystonia, focal Polycythemia Show more (+15) |
Dystonia, foot
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
3
|
No
|
Dystonia, focal
T1 hyperintensities on MRI Bradykinesia Parkinsonism Anarthria Hypermanganesemia Delayed speech and language development Motor delay Ferritin disadvantage Muscular hypotonia Delayed gross motor development Cognitive impairment Hypomimia Polycythemia Show more (+11) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
2
|
No
|
Dystonia, axial
Hypermanganesemia T1 hyperintensities on MRI Ferritin disadvantage Bradykinesia Polycythemia Anarthria Dystonia, focal Rigidity Dystonia (any or unspecified) Hypomimia Delayed speech and language development Delayed gross motor development Dystonia, limb Dystonia, arm Motor delay Cognitive impairment Dystonia, leg Parkinsonism Show more (+16) |
Dystonia, axial
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
3
|
No
|
Rigidity
Dystonia (any or unspecified) Dystonia, limb Ferritin disadvantage Polycythemia Delayed speech and language development Delayed gross motor development Parkinsonism Dystonia, focal Dystonia, leg Dystonia, arm Anarthria Dystonia, axial Hypomimia T1 hyperintensities on MRI Bradykinesia Motor delay Hypermanganesemia Show more (+15) |
Dystonia, leg
|
|
Yes
|
♀
|
n.a.
|
EGY
|
4
|
5
|
No
|
Dystonia, limb
Polycythemia Dystonia, focal Hypomimia Dystonia, foot T1 hyperintensities on MRI Dystonia (any or unspecified) Motor delay Ferritin disadvantage Hypermanganesemia Parkinsonism Rigidity Delayed speech and language development Delayed gross motor development Dystonia, leg Bradykinesia Show more (+13) |
Dystonia, foot
|
|
Yes
|
♂
|
n.a.
|
EGY
|
2
|
11
|
Yes
|
T1 hyperintensities on MRI
Dystonia, focal Bradykinesia Ferritin disadvantage Hypomimia Polycythemia Motor delay Dystonia, arm Dystonia, leg Hypermanganesemia Dysarthria Parkinsonism Delayed gross motor development Dystonia (any or unspecified) Dystonia, limb Rigidity Show more (+13) |
n.a.
|