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