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