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