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