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
|
Dysarthria
Axial hypotonia Delayed speech and language development Tremor, limb Myoclonus Trigger: Anxiety -Motor Spasticity Dyskinesia Tremor (any or unspecified) Paroxysmal dyskinesia Trigger: Stress Hyperreflexia Motor delay Weakness Dystonia, axial Facial twitches Dystonia, task-specific Ballism Gait impairment Delayed gross motor development Resting tremor Attacks at rest Dysphonia Chorea Show more (+22) |
n.a.
|
|
Yes
|
♀
|
C
|
USA
|
5
|
18
|
No
|
Paroxysmal dyskinesia
Dyskinesia Dystonia, task-specific Chorea Facial twitches Dysarthria Dystonia, limb -Motor Show more (+5) |
n.a.
|