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