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