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