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