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