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