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