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