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
Dyskinesia
Delayed speech and language development
Dysarthria
Motor delay
Chorea
Gait impairment
Axial hypotonia
Anarthria
Cognitive impairment
Ballism
-Motor
Developmental regression
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Chorea
Yes
C
n.a.
1
8
No
Dyskinesia
Delayed gross motor development
Gait impairment
Weakness
Axial hypotonia
Dysarthria
Chorea
Motor delay
Myoclonus
-Motor
Dystonia, task-specific
Dystonia, generalized
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n.a.
Yes
C
n.a.
1
32
Yes
Delayed gross motor development
Tremor, head
Axial hypotonia
Dystonia, limb
Dyskinesia
-Motor
Hyperreflexia
Spasticity
Tremor, limb
Motor delay
Tremor (any or unspecified)
Delayed speech and language development
Gait impairment
Chorea
Resting tremor
Dystonia, arm
Dystonia, task-specific
Paroxysmal dyskinesia
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Chorea