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