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