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