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,ÃÂ sensorineural deafness, congenital horizontal gaze palsy,ÃÂ central hypoventilation, and developmental delay.
Symptoms of Athabaskan brainstem dysgenesis syndrome include developmental delay, central hypoventilation, sensorineural deafness, congenital horizontal gaze palsy, and additional variableÃÂ characteristics, such as facial paresis.
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. 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.
The diagnostic criteria for Athabaskan brainstem dysgenesis syndrome include:
Treatment includes mechanical ventilation and supplemental oxygen.