Athabaskan brainstem dysgenesis syndrome (ABDS) or Athabascan brainstem dysgenesis syndrome is an extremely rare genetic condition that affects the central nervous system's brainstem. It is characterized by a variety of varied traits, such as facial paresis, sensorineural deafness, congenital horizontal gaze palsy, central hypoventilation, and developmental delay.[1]
| Athabaskan brainstem dysgenesis syndrome | |
|---|---|
| Other names | Athabascan brainstem dysgenesis syndrome, ABDS |
 | |
| Athabaskan brainstem dysgenesis syndrome is an autosomal recessive disorder. | |
| Specialty | Medical genetics |
Symptoms of Athabaskan brainstem dysgenesis syndrome include developmental delay, central hypoventilation, sensorineural deafness, congenital horizontal gaze palsy, and additional variable characteristics, such as facial paresis.[1]
It has been established that HOXA1 deficiency, which disrupts normal motor neuron development and results in loss of normal brainstem function, is the genetic etiology of Athabaskan brainstem dysgenesis syndrome.[2] It has been discovered that two loss-of-function non-sense mutations in the HOXA1 gene, which result in a shortened protein product, are homozygous in patients with Athabaskan brainstem dysgenesis syndrome.[3]
The diagnostic criteria for Athabaskan brainstem dysgenesis syndrome include:[1]
Treatment includes mechanical ventilation and supplemental oxygen.[4]