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