Waalkens, 2018: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
2
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
40
|
No
|
Muscular hypotonia
Dystonia, limb Dystonia, task-specific Spasticity Dyskinesia Dystonia, foot Weakness Dystonia, hand Axial hypotonia Hyperreflexia Dystonia, focal -Motor Show more (+9) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
16
|
No
|
n.a.
|