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