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
Dyskinesia
Gait impairment
Chorea
Dystonia, limb
-Motor
Dystonia, hand
Muscular hypotonia
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n.a.
Yes
C
FRA
1
39
Yes
Dystonia, cervical
-Motor
Dyskinesia
Gait impairment
Hyperreflexia
Dystonia, craniofacial
Dystonia, limb
Chorea
Dystonia, arm
Dystonia, foot
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n.a.