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