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