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