| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
I
|
PAK
|
11
|
26
|
Yes
|
Dystonia, focal
Dystonia, parkinsonism or dyskinesia Tremor, head Tremor (any or unspecified) Developmental regression Dystonia, craniofacial Dystonia, cervical Dystonia (any or unspecified) Show more (+5) |
Tremor (any or unspecified)
Dystonia, cervical |
|
Yes
|
♀
|
O
|
n.a.
|
0
|
3
|
No
|
Muscular hypotonia
Bradykinesia Parkinsonism Dystonic tremor Motor delay Dystonia, generalized Rigidity Dyskinesia Developmental regression Dystonia (any or unspecified) Dystonia, parkinsonism or dyskinesia Show more (+8) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
0
|
7
|
No
|
Bradykinesia
Dyskinesia, orolingual Dystonia (any or unspecified) Developmental regression Motor delay Dystonia, generalized Dystonia, parkinsonism or dyskinesia Dyskinesia Dystonic tremor Rigidity Chorea Parkinsonism Muscular hypotonia Show more (+10) |
Parkinsonism
|
|
No
|
♂
|
I
|
PAK
|
11
|
16
|
Yes
|
Tremor, head
Tremor (any or unspecified) Tremor, limb Developmental regression Dystonia, parkinsonism or dyskinesia Show more (+2) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
I
|
PAK
|
11
|
28
|
Yes
|
Tremor (any or unspecified)
Bradykinesia Ocular flutter Dystonia, parkinsonism or dyskinesia Parkinsonism Developmental regression Postural instability Resting tremor Show more (+5) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
C
|
n.a.
|
0
|
4
|
No
|
Dystonia (any or unspecified)
Muscular hypotonia Parkinsonism Dystonia, parkinsonism or dyskinesia Developmental regression Dyskinesia Motor delay Dystonia, generalized Bradykinesia Dystonic tremor Rigidity Show more (+8) |
n.a.
|