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