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