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