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