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
Dystonia, cervical Anarthria Dystonia, oromandibular Dyskinesia Dyskinesia, orolingual Motor delay Ptosis Rigidity Dystonia (any or unspecified) Dystonia, generalized Dystonia, arm Dystonia, leg Dystonia, foot Dystonia, hand Dystonia, limb Muscular hypotonia Dystonic crisis Hyperreflexia Dystonia, parkinsonism or dyskinesia Show more (+17) |
Dystonia, generalized
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Dystonia, axial
Dystonia, foot Dystonic crisis Dyskinesia, orolingual Tremor (any or unspecified) Dystonia, parkinsonism or dyskinesia Dystonia, limb Muscular hypotonia Dystonia, cervical Rigidity Dystonia (any or unspecified) Dystonia, oromandibular Developmental delay/intellectual disability Dyskinesia Motor delay Dystonia, arm Dystonia, generalized Dystonia, hand Anarthria Dystonia, leg Show more (+17) |
Muscular hypotonia
Dystonia, generalized |