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