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