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