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