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