Douglas, 2017: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
GBR
2
32
Yes
Dyskinesia
-Motor
Chorea
Gait impairment
Trigger: Stress
Dystonia, limb
Dystonia, arm
Tremor (any or unspecified)
Tremor, head
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n.a.
Yes
n.a.
GBR
2
13
Yes
Dystonia, oromandibular
-Motor
Dyskinesia
Dystonia, axial
Dystonia, limb
Facial twitches
Dystonia, laryngeal
Myoclonus
Dysarthria
Trigger: Anxiety
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n.a.
No
n.a.
GBR
4
5
Yes
Dystonia, limb
Dysarthria
Facial twitches
Dyskinesia
Dystonia, foot
-Motor
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n.a.
No
n.a.
GBR
n.a.
54
Yes
Gait impairment
Myoclonus
-Motor
Dysarthria
Chorea
Dyskinesia
Trigger: Sleep deprivation
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n.a.