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