Waalkens, 2018: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
1
2
No
Muscular hypotonia
Chorea
Dyskinesia
Hyperreflexia
-Motor
Motor delay
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n.a.
Yes
n.a.
n.a.
n.a.
40
No
Dystonia, task-specific
Weakness
Hyperreflexia
Dystonia, limb
Dyskinesia
Dystonia, foot
Dystonia, hand
Spasticity
Dystonia, focal
Muscular hypotonia
-Motor
Axial hypotonia
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n.a.
Yes
n.a.
n.a.
2
16
No
-Motor
Dystonia, limb
Chorea
Dyskinesia
Paroxysmal dyskinesia
Tics
Show more (+3)
n.a.