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