What Your Test Results Mean:

Some female carriers can show symptoms in the form of gradual weakness with muscle spasms in the legs, known as spastic paraparesis, while others show no symptoms at all. Female carriers also have an increased chance to have a child with X-linked adrenoleukodystrophy. The chance to have a child with X-linked adrenoleukodystrophy depends on the sex of the child. Consultation with a genetic counselor for a more detailed risk assessment is recommended.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

X-linked adrenoleukodystrophy is an inherited disorder that is more common in boys and primarily affects the nervous system and the adrenal glands of the kidneys. The severity of symptoms and age of onset vary greatly from person to person. Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of four and 10. Symptoms include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. Milder forms of X-linked adrenoleukodystrophy can present later in life and may or may not be life-threatening. Symptoms include progressive stiffness and weakness in the legs (paraparesis), urinary and genital tract disorders, changes in behavior and thinking ability, and adrenocortical insufficiency.

Prognosis:

Individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin, but they may survive longer with intensive medical support. Individuals with milder forms of X-linked adrenoleukodystrophy typically survive into adulthood.

Treatment:

There is no cure for X-linked adrenoleukodystrophy. Individuals with cerebral disease benefit from supportive care. Stem cell transplantation may stop disease progression if performed during the initial stages of the disease. Individuals with milder forms of X-linked adrenoleukodystrophy may benefit from physical therapy, management of urologic complications, and family and vocational counseling. Adrenocortical insufficiency is treated with corticosteroids.