Dy, 2016: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
O
|
PRI
|
0
|
3
|
No
|
Axial hypotonia
Motor delay Gait impairment Delayed speech and language development Ballism Chorea Cognitive impairment Dyskinesia Dysarthria Anarthria -Motor Developmental regression Show more (+9) |
Chorea
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
8
|
No
|
Delayed gross motor development
Dysarthria Weakness Chorea Dystonia, generalized Axial hypotonia Dystonia, task-specific Myoclonus Dyskinesia -Motor Gait impairment Motor delay Show more (+9) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
32
|
Yes
|
Dyskinesia
Axial hypotonia Dystonia, arm Tremor, head Motor delay Dystonia, task-specific Delayed speech and language development Hyperreflexia Paroxysmal dyskinesia Spasticity Tremor, limb Dystonia, limb -Motor Chorea Resting tremor Delayed gross motor development Gait impairment Tremor (any or unspecified) Show more (+15) |
Chorea
|