Barrett, 2017: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
8
24
Yes
Delayed speech and language development
Dystonia, cervical
Dystonia, hand
Dystonia, limb
-Motor
Dystonia, generalized
Gait impairment
Myoclonus
Dyskinesia
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n.a.
Yes
n.a.
n.a.
3
27
Yes
Myoclonus
Dystonia, generalized
Delayed gross motor development
Dyskinesia
-Motor
Motor delay
Dystonia, limb
Delayed speech and language development
Gait impairment
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n.a.