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