| Athabaskan brainstem dysgenesis syndrome | |
|---|---|
| Other names | Athabascan brainstem dysgenesis syndrome, ABDS |
 | |
| Athabaskan brainstem dysgenesis syndrome is an autosomal recessive disorder. | |
| Specialty | Medical genetics |
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]
Signs and symptoms[edit]
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]
Causes[edit]
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]
Diagnosis[edit]
The diagnostic criteria for Athabaskan brainstem dysgenesis syndrome include:[1]
- Verification of sensorineural deafness by brainstem auditory evoked responses.[1]
- Upon conjugate lateral gazing, there is horizontal gaze palsy; however, the medial gaze remains intact with convergence.[1]
- Central hypoventilation shown by hypoxia and/or respiratory acidosis without an underlying neuromuscular or lung disease.[1]
- Developmental delays.[1]
- Either cardiac outflow tract abnormalities, seizures, vocal cord paresis, or facial paresis.[1]
Treatment[edit]
Treatment includes mechanical ventilation and supplemental oxygen.[4]
See also[edit]
References[edit]
- ^ a b c d e f g h Holve, Steve; Friedman, Barbara; Hoyme, H. Eugene; Tarby, Theodore J.; Johnstone, Sharon J.; Erickson, Robert P.; Clericuzio, Carol L.; Cunniff, Christopher (2003). "Athabascan brainstem dysgenesis syndrome". American Journal of Medical Genetics Part A. 120A (2). Wiley: 169–173. doi:10.1002/ajmg.a.20087. ISSN 1552-4825.
- ^ Erickson, Robert P. (2009-10-28). "Autosomal recessive diseases among the Athabaskans of the Southwestern United States: Recent advances and implications for the future". American Journal of Medical Genetics Part A. 149A (11). Wiley: 2602–2611. doi:10.1002/ajmg.a.33052. ISSN 1552-4825.
- ^ Engle, Elizabeth C. (2007-05-01). "Oculomotility Disorders Arising From Disruptions in Brainstem Motor Neuron Development". Archives of Neurology. 64 (5). American Medical Association (AMA): 633. doi:10.1001/archneur.64.5.633. ISSN 0003-9942.
- ^ "Athabascan Brainstem Dysgenesis Syndrome". EyeWiki. 2023-11-12. Retrieved 2024-02-28.