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
Gait impairment
Tremor (any or unspecified)
Trigger: Stress
-Motor
Dystonia, arm
Tremor, head
Chorea
Dystonia, limb
Dyskinesia
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n.a.
Yes
n.a.
GBR
2
13
Yes
-Motor
Dystonia, limb
Trigger: Anxiety
Myoclonus
Dysarthria
Dystonia, axial
Facial twitches
Dyskinesia
Dystonia, laryngeal
Dystonia, oromandibular
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n.a.
No
n.a.
GBR
4
5
Yes
Dyskinesia
Facial twitches
Dysarthria
-Motor
Dystonia, limb
Dystonia, foot
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n.a.
No
n.a.
GBR
n.a.
54
Yes
Chorea
-Motor
Myoclonus
Dyskinesia
Gait impairment
Dysarthria
Trigger: Sleep deprivation
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n.a.