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