Adrenoleukodystrophy (ALD) is a rare inherited disorder that affects the nervous system and adrenal glands. It usually occurs in males between the ages of 4 and 10, but can also occur in adults and rarely in females. The age of onset of ALD is variable, from infancy to adulthood, depending on the type of ALD.
In the most common form of ALD, also known as the childhood cerebral form, the age of onset is usually between 4 and 10 years. This form of ALD is characterized by a gradual loss of intellectual ability, behavior changes, vision loss, hearing loss, muscle weakness, and seizures. It can also cause a buildup of very long chain fatty acids in the body, which can lead to damage to the myelin sheath that surrounds nerve cells.
In the adult, or adrenomyeloneuropathy (AMN) form of ALD, the age of onset is usually between 20 and 40 years. This form is characterized by a progressive loss of strength in the legs, as well as vision, hearing, and cognitive problems. It can also cause a buildup of very long chain fatty acids in the body, which can lead to damage to the myelin sheath that surrounds the nerve cells.
In the female carrier form of ALD, the age of onset is usually later in life, often after the age of 40. This form is characterized by a progressive loss of strength in the legs, as well as vision, hearing, and cognitive problems. It is caused by a mutation in one of the X chromosomes that is passed down from the mother.
No matter what form of ALD is present, early diagnosis and treatment is essential for improving outcomes. Treatment typically includes dietary modifications and medications to reduce the accumulation of very long chain fatty acids in the body, as well as physical, occupational, and speech therapy to help improve motor skills and communication.