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