Barrett, 2017: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
8
|
24
|
Yes
|
Delayed speech and language development
Dyskinesia Dystonia, cervical Dystonia, hand Dystonia, generalized -Motor Gait impairment Dystonia, limb Myoclonus Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
27
|
Yes
|
-Motor
Delayed gross motor development Motor delay Myoclonus Dystonia, generalized Dystonia, limb Dyskinesia Gait impairment Delayed speech and language development Show more (+6) |
n.a.
|