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