What is the definition of Athabaskan Brain Stem Dysgenesis?
Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 syndromes have been described in Native American populations (primarily the Navajo and Apache Indians) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population. Human HOXA1 syndromes are caused by genetic changes (DNA variants) in the HOXA1 gene and inherited in an autosomal recessive pattern. Diagnosis is made based on the symptoms and confirmed by genetic testing. Treatment is based on managing the specific symptoms.
What are the alternative names for Athabaskan Brain Stem Dysgenesis?
- Navajo brainstem syndrome
- Athabaskan Brainstem Dysgenesis Syndrome
- Bosley Salih Alorainy syndrome
- Athabaskan Brainstem Dysgenesis
What are the causes for Athabaskan Brain Stem Dysgenesis?
Human HOXA1 syndromes are caused by genetic changes (DNA variants) in the HOXA1 gene.
What are the symptoms for Athabaskan Brain Stem Dysgenesis?
The following list includes the most common signs and symptoms in people with Human HOXA1 syndromes. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition.
Symptoms may include:
- Horizontal eye movement disorder
- Profound deafness
- Inner ear abnormalities
- Blood vessel defects or abnormalities involving blood flow to and from the heart
- Breathing abnormalities
- Facial weakness or asymmetry
The symptoms of Human HOXA1 syndromes are present in infancy. Some people with this condition have been reported to have intellectual and motor delays, and autistic-like behavior. Because this condition is so rare, not much is understood about how the symptoms change over time.
What are the current treatments for Athabaskan Brain Stem Dysgenesis?
Treatment for Human HOXA1 syndromes is based on managing the symptoms. Some children may require breathing support, especially while sleeping. Some of the specialists that may be involved in the care of someone with a Human HOXA1 syndrome include:
- Cardiologists (heart specialists)
- Pulmonologists (lung and breathing specialists)
- Dental specialists
- Speech pathologists
- Audiologists (specialists who assess and treat hearing problems)
- Ophthalmologists (eye specialists)
- Developmental and behavioral specialists
Is Athabaskan Brain Stem Dysgenesis an inherited disorder?
Human HOXA1 syndromes are inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the gene must be altered to have the condition.
People with autosomal recessive conditions inherit one altered gene from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.