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