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