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