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