Chen, 2014: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
USA
|
2
|
15
|
No
|
Dyskinesia
Trigger: Stress Axial hypotonia Delayed speech and language development Weakness Tremor, limb -Motor Trigger: Anxiety Dysphonia Paroxysmal dyskinesia Attacks at rest Dystonia, axial Facial twitches Myoclonus Gait impairment Chorea Dysarthria Ballism Delayed gross motor development Spasticity Motor delay Dystonia, task-specific Tremor (any or unspecified) Resting tremor Hyperreflexia Show more (+22) |
n.a.
|
|
Yes
|
♀
|
C
|
USA
|
5
|
18
|
No
|
Dystonia, limb
Dysarthria Facial twitches Dystonia, task-specific Dyskinesia -Motor Paroxysmal dyskinesia Chorea Show more (+5) |
n.a.
|