Carecchio, 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
|
ITA
|
3
|
47
|
Yes
|
Delayed speech and language development
Chorea Trigger: Sleep deprivation -Motor Motor delay Dyskinesia Show more (+3) |
Chorea
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
15
|
No
|
Chorea
Axial hypotonia Motor delay -Motor Dyskinesia Paroxysmal dyskinesia Delayed speech and language development Gait impairment Dystonia, generalized Dystonia, foot Dystonia, limb Dysarthria Trigger: Sleep deprivation Show more (+10) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
1
|
3
|
Yes
|
Motor delay
-Motor Axial hypotonia Dystonia, foot Dyskinesia Delayed speech and language development Dystonia, limb Chorea Gait impairment Show more (+6) |
Chorea
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
35
|
No
|
Chorea
Dyskinesia -Motor Axial hypotonia Dysarthria Dystonia, foot Dystonia, hand Motor delay Dystonia, limb Delayed speech and language development Show more (+7) |
Chorea
|
|
Yes
|
♂
|
C
|
n.a.
|
2
|
5
|
No
|
Dystonia, arm
Muscular hypotonia Dyskinesia Dystonia, limb -Motor Chorea Motor delay Axial hypotonia Delayed speech and language development Dystonia, axial Show more (+7) |
Chorea
|
|
Yes
|
♂
|
C
|
ITA
|
1
|
18
|
No
|
Chorea
Gait impairment Trigger: Stress Myoclonus Dystonia, cervical Dysarthria Dystonia, generalized Spasticity -Motor Paroxysmal dyskinesia Dyskinesia Motor delay Show more (+9) |
n.a.
|