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