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