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