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