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