Dy, 2016: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
O
PRI
0
3
No
Delayed speech and language development
Anarthria
Chorea
Developmental regression
Axial hypotonia
Dysarthria
Gait impairment
Ballism
Dyskinesia
Motor delay
-Motor
Cognitive impairment
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Chorea
Yes
C
n.a.
1
8
No
Delayed gross motor development
Myoclonus
Dyskinesia
-Motor
Motor delay
Weakness
Dysarthria
Axial hypotonia
Gait impairment
Dystonia, generalized
Dystonia, task-specific
Chorea
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n.a.
Yes
C
n.a.
1
32
Yes
Delayed gross motor development
Dystonia, limb
Chorea
Paroxysmal dyskinesia
Delayed speech and language development
Spasticity
Dystonia, arm
Gait impairment
Tremor, limb
Dyskinesia
Tremor, head
Axial hypotonia
-Motor
Motor delay
Hyperreflexia
Tremor (any or unspecified)
Resting tremor
Dystonia, task-specific
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Chorea