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