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