Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis syndrome (ABDS) is a very rare syndrome described in about 13 Athabaskan Native Americans. A rare neurological disorder caused by abnormal brainstem development and function.
It is possible that ABDS may be not be all that rare among Athabaskan Native Americans. Therefore, it has been suggested that all Athabaskan Native American children presenting with horizontal gaze palsies and hearing problems be evaluated for this condition.
- Abnormality of brainstem morphology
- Abnormality of eye movement
- Central hypoventilation
- Inability to move eyes properly
- Developmental retardation
- Horizontal gaze palsy
- Swallowing difficulty
- Facial paresis
- Mental retardation
- Difficulty moving eyes horizontally
- Sensorineural deafness
- Developmental delay
- Vocal cord paralysis
- Facial weakness
- Heart blood vessel anomalies
ABDS and another condition, known as Bosley-Salih-Alorainy sindrome (BSAS), are caused by mutations in the HOXA1 gene, but only ABDS has central hypoventilation. Treatment includes supplemental oxygen or mechanical ventilation.