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
-Motor
Gait impairment
Chorea
Facial twitches
Ballism
Dyskinesia
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n.a.
Yes
B
PAK
2
22
No
Dystonia, axial
Delayed gross motor development
Trigger: Anxiety
Ballism
Dystonia, foot
Dystonia, hand
Gait impairment
Chorea
Motor delay
Cerebellar signs
Attacks at rest
Dystonia, limb
Trigger: Stress
Paroxysmal dyskinesia
-Motor
Dyskinesia
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n.a.
Yes
C
GBR
1
36
Yes
Ballism
Dystonia, task-specific
Gait impairment
Attacks at rest
Dyskinesia
Trigger: Stress
Chorea
Trigger: Sleep deprivation
-Motor
Facial twitches
Dysarthria
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Chorea