| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
PAK
|
8
|
8
|
Yes
|
Polycythemia
Dystonia, foot Dystonia, task-specific Hypermanganesemia Dystonia, limb Dystonia, generalized Dystonia, leg T1 hyperintensities on MRI Dystonia (any or unspecified) Dysarthria Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
PAK
|
10
|
13
|
Yes
|
Dysarthria
Dystonia, arm Dystonia (any or unspecified) Dystonia, task-specific Hypermanganesemia Dystonia, generalized Dystonia, leg T1 hyperintensities on MRI Dystonia at rest Dystonia, hand Dystonia, foot Polycythemia Dystonia, limb Show more (+10) |
n.a.
|
|
No
|
♂
|
n.a.
|
PAK
|
6
|
23
|
Yes
|
Dystonia, generalized
Hypermanganesemia T1 hyperintensities on MRI Dysarthria Polycythemia Dystonia (any or unspecified) Dysphonia Dystonia, limb Rigidity Show more (+6) |
n.a.
|