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