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