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