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
Anarthria
Dystonia, arm
Axial hypotonia
Dystonia, cervical
Dystonia, craniofacial
Gait impairment
Dyskinesia
Dystonia, generalized
Dystonia, limb
-Motor
Developmental regression
Dystonia, focal
Chorea
Dystonia, axial
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Chorea