Zech, 2017: 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.
4
19
No
Retrocollis
Dystonia, hand
Dystonia, craniofacial
Dysarthria
Dystonia, axial
Torticollis
Motor delay
Myoclonus
Chorea
Dystonia, generalized
-Motor
Dyskinesia
Hyperreflexia
Dystonia, limb
Gait impairment
Dystonia, cervical
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n.a.
No
n.a.
n.a.
29
32
Yes
-Motor
Torticollis
Dyskinesia
Tremor, head
Tremor (any or unspecified)
Dystonia, cervical
Dystonic tremor
Dystonia, focal
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Torticollis
Tremor, head
Yes
n.a.
n.a.
29
52
Yes
Dystonic tremor
Torticollis
Tremor, head
Dyskinesia
Dystonia, cervical
Dystonia, focal
-Motor
Tremor (any or unspecified)
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Tremor, head