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