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