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