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
Dystonia, craniofacial Dysarthria Dystonia, axial Gait impairment Dystonia, limb Torticollis Chorea Retrocollis Myoclonus Dystonia, cervical Dystonia, generalized Motor delay -Motor Hyperreflexia Dystonia, hand Show more (+13) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
29
|
32
|
Yes
|
Dyskinesia
Dystonia, focal -Motor Torticollis Dystonia, cervical Dystonic tremor Tremor, head Tremor (any or unspecified) Show more (+5) |
Torticollis
Tremor, head |
|
Yes
|
♀
|
n.a.
|
n.a.
|
29
|
52
|
Yes
|
Dystonia, cervical
Dystonia, focal Tremor (any or unspecified) Dystonic tremor Tremor, head Dyskinesia -Motor Torticollis Show more (+5) |
Tremor, head
|