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