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