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