Yildiz, 2017: Overview of all reported DYT/PARK-SLC6A3 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
2
|
No
|
Developmental delay/intellectual disability
Dyskinesia, orolingual Hyperreflexia Anarthria Dystonia, limb Dystonia, oromandibular Dystonia, generalized Dystonia, cervical Dystonia, hand Rigidity Dystonia, foot Dystonia, arm Dystonia, leg Dyskinesia Motor delay Ptosis Dystonia (any or unspecified) Dystonic crisis Muscular hypotonia Dystonia, parkinsonism or dyskinesia Show more (+17) |
Dystonia, generalized
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Rigidity
Dystonia, foot Dystonia, leg Motor delay Dyskinesia Dystonia, cervical Dystonia, hand Anarthria Dystonia, oromandibular Developmental delay/intellectual disability Dystonia, generalized Dystonia, axial Dystonia, limb Dystonia, arm Dystonia (any or unspecified) Dystonia, parkinsonism or dyskinesia Muscular hypotonia Dystonic crisis Dyskinesia, orolingual Tremor (any or unspecified) Show more (+17) |
Dystonia, generalized
Muscular hypotonia |