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