Zech, 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
C
AUT
1
34
No
Axial hypotonia
Dyskinesia
Dystonia, limb
Chorea
Dystonia, axial
Dystonia, generalized
Dystonia, focal
Gait impairment
Dystonia, arm
Dystonia, craniofacial
Developmental regression
Anarthria
Dystonia, cervical
-Motor
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Chorea