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