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