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