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