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