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