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