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