Mencacci, 2015: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
GBR
1
64
Yes
Dyskinesia
Gait impairment
Ballism
Facial twitches
Chorea
-Motor
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n.a.
Yes
B
PAK
2
22
No
Dystonia, foot
Gait impairment
Chorea
-Motor
Cerebellar signs
Dystonia, hand
Trigger: Anxiety
Attacks at rest
Paroxysmal dyskinesia
Ballism
Delayed gross motor development
Trigger: Stress
Dystonia, limb
Dyskinesia
Dystonia, axial
Motor delay
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n.a.
Yes
C
GBR
1
36
Yes
Trigger: Stress
Gait impairment
Dystonia, task-specific
Chorea
Dysarthria
Dyskinesia
Attacks at rest
Trigger: Sleep deprivation
Ballism
Facial twitches
-Motor
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Chorea