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