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