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