Zech, 2017: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
AUT
|
1
|
34
|
No
|
Axial hypotonia
Dyskinesia -Motor Gait impairment Developmental regression Dystonia, generalized Dystonia, cervical Dystonia, focal Dystonia, axial Chorea Dystonia, arm Dystonia, craniofacial Dystonia, limb Anarthria Show more (+11) |
Chorea
|