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