Carapito, 2015: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
FRA
4
15
Yes
-Motor
Muscular hypotonia
Dyskinesia
Dystonia, hand
Dystonia, limb
Gait impairment
Chorea
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n.a.
Yes
C
FRA
1
39
Yes
Dystonia, limb
Chorea
Dystonia, arm
-Motor
Dyskinesia
Dystonia, foot
Dystonia, craniofacial
Dystonia, cervical
Gait impairment
Hyperreflexia
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n.a.