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

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
D
USA
4
16
No
Dysphonia
Dystonia, axial
Myoclonus
Chorea
Gait impairment
Dystonia, generalized
Axial hypotonia
Motor delay
Dystonia, arm
Dystonia, limb
Dysarthria
Dyskinesia
-Motor
Delayed gross motor development
Dystonia, foot
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n.a.