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