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