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