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