| 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, leg T1 hyperintensities on MRI Dystonia, generalized Dystonia (any or unspecified) Dystonia, limb Dystonia, task-specific Dysarthria Dystonia, foot Hypermanganesemia Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
PAK
|
10
|
13
|
Yes
|
Dystonia, task-specific
Dystonia, foot Dystonia, arm Dystonia at rest Dysarthria Dystonia, leg Dystonia, limb T1 hyperintensities on MRI Dystonia, generalized Dystonia (any or unspecified) Hypermanganesemia Dystonia, hand Polycythemia Show more (+10) |
n.a.
|
|
No
|
♂
|
n.a.
|
PAK
|
6
|
23
|
Yes
|
Dystonia, generalized
T1 hyperintensities on MRI Polycythemia Hypermanganesemia Rigidity Dysphonia Dysarthria Dystonia, limb Dystonia (any or unspecified) Show more (+6) |
n.a.
|