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
Delayed gross motor development Hypermanganesemia Dystonia (any or unspecified) Hypomimia Bradykinesia Dystonia, leg Ferritin disadvantage Delayed speech and language development T1 hyperintensities on MRI Motor delay Parkinsonism Rigidity Dystonia, limb Dystonia, arm Polycythemia Anarthria Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
EGY
|
1
|
12
|
Yes
|
Bradykinesia
Delayed gross motor development Ferritin disadvantage Hypermanganesemia Hypomimia Dysarthria Dystonia, leg Delayed speech and language development T1 hyperintensities on MRI Motor delay Polycythemia Parkinsonism Dystonia, focal Dystonia, arm Dystonia, limb Dystonia (any or unspecified) Rigidity Show more (+14) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
EGY
|
10
|
17
|
Yes
|
Dystonia, leg
Rigidity Hypomimia Parkinsonism Dystonia (any or unspecified) Dystonia, limb T1 hyperintensities on MRI Polycythemia Bradykinesia Delayed gross motor development Hypermanganesemia Ferritin disadvantage Dysarthria Dystonia, focal Motor delay Show more (+12) |
Dystonia, leg
|
|
No
|
♀
|
n.a.
|
EGY
|
1
|
2
|
Yes
|
T1 hyperintensities on MRI
Parkinsonism Dystonia, leg Ferritin disadvantage Delayed gross motor development Motor delay Hypomimia Dystonia, focal Anarthria Dystonia (any or unspecified) Dystonia, limb Rigidity Bradykinesia Dystonia, arm Hypermanganesemia Polycythemia Delayed speech and language development Show more (+14) |
n.a.
|
|
No
|
♂
|
n.a.
|
EGY
|
2
|
10
|
Yes
|
Delayed gross motor development
Cognitive impairment Ferritin disadvantage Anarthria Bradykinesia Rigidity Hypomimia Dystonia, foot T1 hyperintensities on MRI Parkinsonism Hypermanganesemia Delayed speech and language development Dystonia, limb Polycythemia Dystonia, focal Motor delay Dystonia (any or unspecified) Dystonia, leg Show more (+15) |
Dystonia, foot
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
3
|
No
|
Muscular hypotonia
Parkinsonism T1 hyperintensities on MRI Hypermanganesemia Anarthria Polycythemia Motor delay Delayed gross motor development Hypomimia Dystonia, focal Cognitive impairment Ferritin disadvantage Delayed speech and language development Bradykinesia Show more (+11) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
2
|
No
|
Rigidity
Dystonia, leg Dystonia, limb Polycythemia Delayed gross motor development Dystonia (any or unspecified) Dystonia, axial Delayed speech and language development T1 hyperintensities on MRI Anarthria Motor delay Parkinsonism Hypermanganesemia Bradykinesia Dystonia, arm Dystonia, focal Ferritin disadvantage Cognitive impairment Hypomimia Show more (+16) |
Dystonia, axial
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
3
|
No
|
Motor delay
Dystonia, focal Delayed speech and language development Bradykinesia Dystonia (any or unspecified) Ferritin disadvantage Rigidity Dystonia, leg Parkinsonism Dystonia, limb Hypomimia Hypermanganesemia Anarthria T1 hyperintensities on MRI Dystonia, axial Dystonia, arm Polycythemia Delayed gross motor development Show more (+15) |
Dystonia, leg
|
|
Yes
|
♀
|
n.a.
|
EGY
|
4
|
5
|
No
|
Rigidity
Dystonia, focal Parkinsonism Polycythemia Motor delay Hypomimia Delayed speech and language development Dystonia (any or unspecified) Dystonia, leg Dystonia, limb Hypermanganesemia Dystonia, foot Bradykinesia Ferritin disadvantage Delayed gross motor development T1 hyperintensities on MRI Show more (+13) |
Dystonia, foot
|
|
Yes
|
♂
|
n.a.
|
EGY
|
2
|
11
|
Yes
|
Hypermanganesemia
Dystonia (any or unspecified) Polycythemia Bradykinesia Dystonia, focal T1 hyperintensities on MRI Motor delay Dystonia, arm Parkinsonism Dystonia, leg Rigidity Delayed gross motor development Dysarthria Dystonia, limb Ferritin disadvantage Hypomimia Show more (+13) |
n.a.
|