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