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