Chen, 2014: 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
USA
2
15
No
Chorea
Dyskinesia
Tremor (any or unspecified)
Axial hypotonia
Attacks at rest
Myoclonus
Dysarthria
Gait impairment
Motor delay
Dystonia, task-specific
-Motor
Dystonia, axial
Ballism
Dysphonia
Trigger: Anxiety
Trigger: Stress
Weakness
Spasticity
Resting tremor
Facial twitches
Paroxysmal dyskinesia
Delayed speech and language development
Hyperreflexia
Delayed gross motor development
Tremor, limb
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n.a.
Yes
C
USA
5
18
No
Paroxysmal dyskinesia
Dyskinesia
-Motor
Chorea
Dystonia, limb
Facial twitches
Dysarthria
Dystonia, task-specific
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n.a.