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