Zech, 2017: Overview of all reported CHOR-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
-Motor Dystonia, limb Dystonia, axial Gait impairment Dysarthria Dystonia, cervical Motor delay Torticollis Dystonia, hand Dyskinesia Hyperreflexia Dystonia, craniofacial Myoclonus Chorea Dystonia, generalized Show more (+13) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
29
|
32
|
Yes
|
-Motor
Dystonia, focal Dystonic tremor Dyskinesia Torticollis Dystonia, cervical Tremor (any or unspecified) Tremor, head Show more (+5) |
Torticollis
Tremor, head |
|
Yes
|
♀
|
n.a.
|
n.a.
|
29
|
52
|
Yes
|
Dystonia, cervical
-Motor Tremor (any or unspecified) Dystonic tremor Dyskinesia Torticollis Dystonia, focal Tremor, head Show more (+5) |
Tremor, head
|