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