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