Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects approximately one in every 20,000-40,000 people worldwide. ALD is caused by a mutation in the ABCD1 gene, which is responsible for producing a protein that helps break down very long chain fatty acids. Without this protein, these fatty acids accumulate in the body, affecting the nervous system and adrenal glands.
ALD typically presents itself in two forms, the most severe form being the childhood cerebral form. This form is more common in males and typically presents itself in early childhood, with symptoms such as behavioral problems, poor coordination, and vision or hearing loss. If left untreated, this form can result in severe neurological damage within months or years.
The other form of ALD is the adult-onset or adrenomyeloneuropathy (AMN). This form is more common in females and usually presents itself in adulthood, with symptoms such as muscle weakness, vision impairment, and urinary problems.
Due to the rarity of ALD, exact statistics regarding the number of people affected by the disorder are difficult to come by. However, estimates suggest that there are approximately 1,000-2,500 people with ALD in the United States and up to 20,000 people worldwide. These numbers may be higher, however, as many cases of ALD may go undiagnosed.
The prognosis for ALD depends on the form of the disorder and the severity of symptoms. Treatment for ALD may include dietary modifications, physical therapy, medication, and stem cell transplants. With early diagnosis and proper treatment, people with ALD can lead full and productive lives.
