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