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