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