Adrenoleukodystrophy (ALD) is an inherited disorder that affects the brain and the adrenal glands. It is caused by mutations in a gene called the ABCD1 gene. It is estimated that 1 in 18,000 to 21,000 individuals are affected by ALD.
Who Is Affected?
ALD affects primarily males, but it can also affect females in some cases. The age of onset of ALD varies from childhood to adulthood, with the most common age of onset being 4 to 10 years old. ALD is most commonly found in individuals of Northern European descent, but it can also be found in individuals of other ethnicities.
What Are the Symptoms?
The symptoms of ALD vary depending on the age of onset and the severity of the disorder. Common symptoms include progressive neurological decline, impaired vision, hearing loss, and seizures. In some cases, ALD can also lead to adrenal insufficiency, which can cause fatigue, weight loss, and low blood pressure.
How Is ALD Diagnosed?
ALD is usually diagnosed through a combination of physical examinations, genetic testing, and magnetic resonance imaging (MRI) scans. A definitive diagnosis of ALD can be made if a mutation in the ABCD1 gene is found.
How Is ALD Treated?
The treatment for ALD is primarily focused on managing symptoms and preventing further neurological decline. Treatment options include supportive care, dietary modifications, and medication. In some cases, stem cell transplantation may be an option for individuals with ALD.