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