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