ALD (Adrenoleukodystrophy) is a rare genetic condition that affects the nervous system and adrenal glands, and is predominantly found in males. ALD affects approximately 1 in 20,000 people, most commonly boys and young men.
Why Does ALD Only Affect Boys?
ALD is caused by a mutation in the X-linked ABCD1 gene which is located on the X chromosome. Since males only have one X chromosome, they are more susceptible to the effects of a mutated gene. Females, on the other hand, have two X chromosomes, so the effects of the mutated gene can be minimized.
What Are the Symptoms of ALD?
The symptoms of ALD vary depending on the age at which the condition is diagnosed. In early onset ALD, symptoms may include vision and hearing loss, seizures, delays in physical and mental development, and muscle weakness. In later onset ALD, symptoms may include behavioural changes, difficulty walking, and lower limb weakness.
How Is ALD Diagnosed?
ALD is diagnosed through a combination of physical and neurological examinations, as well as genetic testing. A blood test may be used to detect elevated levels of very long-chain fatty acids, which is a common sign of ALD.
How Is ALD Treated?
ALD is a progressive condition, so treatment is aimed at slowing the progression of the disease. Treatment may include dietary changes, physical therapy, and medications. In some cases, a bone marrow transplant may be recommended.