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
|
Delayed speech and language development
Anarthria Chorea Developmental regression Axial hypotonia Dysarthria Gait impairment Ballism Dyskinesia Motor delay -Motor Cognitive impairment Show more (+9) |
Chorea
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
8
|
No
|
Delayed gross motor development
Myoclonus Dyskinesia -Motor Motor delay Weakness Dysarthria Axial hypotonia Gait impairment Dystonia, generalized Dystonia, task-specific Chorea Show more (+9) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
32
|
Yes
|
Delayed gross motor development
Dystonia, limb Chorea Paroxysmal dyskinesia Delayed speech and language development Spasticity Dystonia, arm Gait impairment Tremor, limb Dyskinesia Tremor, head Axial hypotonia -Motor Motor delay Hyperreflexia Tremor (any or unspecified) Resting tremor Dystonia, task-specific Show more (+15) |
Chorea
|