X-Linked Adrenoleukodystrophy (X-ALD)

Conditions

About

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. 

Children with the cerebral form of X-ALD experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. The rate at which this condition progresses is variable but can be extremely rapid, often leading to total disability within a few years. The life expectancy of individuals with this type depends on the severity of the signs and symptoms and how quickly the condition progresses. Individuals with the cerebral form of X-ALD usually survive only a few years after symptoms begin, but may survive longer with intensive medical support.

Condition Type:

Core Conditions

Frequency:

The prevalence of X-linked adrenoleukodystrophy (X-ALD) is 1 in 20,000 to 50,000 individuals worldwide.

More Information for Parents:
Also known as:
  • ALD
  • X-ALD
  • X-Linked Adrenoleukodystrophy (ALD)
  • Adrenomyeloneuropathy (AMN)

Core Conditions

Secondary