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