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