Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
TUR
|
0
|
15
|
No
|
Dystonia, generalized
Dystonia, parkinsonism or dyskinesia Ocular flutter Dystonia, arm Tremor (any or unspecified) Rigidity Anarthria Dystonia (any or unspecified) Dystonia, limb Hyperreflexia Spasticity Bradykinesia Chorea Dystonia, foot Dystonia, oromandibular Slow saccades Dystonic crisis Parkinsonism Resting tremor Saccade initiation failure Motor delay Show more (+18) |
Parkinsonism
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Dystonia (any or unspecified)
Chorea Dyskinesia, orolingual Dystonia, parkinsonism or dyskinesia Dystonia, oromandibular Motor delay Muscular hypotonia Dystonia, generalized Slow saccades Anarthria Ocular flutter Parkinsonism Saccade initiation failure Show more (+10) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Dystonia, foot
Dystonic crisis Anarthria Dystonia, parkinsonism or dyskinesia Dystonia, hand Muscular hypotonia Ocular flutter Motor delay Dyskinesia, orolingual Dystonia (any or unspecified) Dystonia, limb Dystonia, oromandibular Bradykinesia Dystonia, generalized Parkinsonism Show more (+12) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
6
|
No
|
Dystonia, generalized
Bradykinesia Anarthria Resting tremor Tremor (any or unspecified) Dystonia (any or unspecified) Dystonia, parkinsonism or dyskinesia Ocular flutter Dyskinesia Dystonia, foot Dystonic crisis Spasticity Muscular hypotonia Parkinsonism Motor delay Hyperreflexia Dystonia, oromandibular Show more (+14) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
16
|
No
|
Dystonia, arm
Dystonia (any or unspecified) Chorea Dystonia, foot Spasticity Tremor (any or unspecified) Bradykinesia Parkinsonism Resting tremor Slow saccades Dystonia, hand Motor delay Dyskinesia, orolingual Dystonia, generalized Dystonia, oromandibular Dystonic crisis Ocular flutter Muscular hypotonia Saccade initiation failure Anarthria Hyperreflexia Dystonia, parkinsonism or dyskinesia Dystonia, limb Show more (+20) |
Parkinsonism
Muscular hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
4
|
No
|
Dystonia, foot
Dystonia, parkinsonism or dyskinesia Anarthria Dystonia, oromandibular Dystonic crisis Dystonia (any or unspecified) Bradykinesia Dystonia, generalized Dyskinesia Motor delay Parkinsonism Show more (+8) |
n.a.
|