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