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