Adrenoleukodystrophy (ALD) is a rare X-linked disease
characterized by accumulation of long fatty acid chains in the
adrenal glands, brain, plasma and fibroblasts. This causes a
degeneration of the myelin sheath that surrounds and protects the
function of the nerve cells. Approximately 1 in 100,000 is
affected. There are three basic forms of ALD: neonatal, childhood,
and adult-onset. The neonatal form affects both males and females.
It progresses rapidly and may lead to mental retardation, facial
abnormalities, seizures, poor muscle tone, enlarged liver and
adrenal dysfunction. The childhood onset is the most common and
also the most severe form. Onset of the disease occurs around the
ages of 4-10 years old. Symptoms include behavioral problems, poor
memory and speech and vision loss, difficulty in swallowing and
unsteadiness in gait. Childhood ALD generally results in total
disability and possible death within ten years of onset. Childhood
ALD primarily affects males.
Adult-onset ALD, also known as Adrenomyeloneuropathy, is milder
and progresses much slower than childhood ALD. Symptoms become
apparent around the ages of 21-35 years of age. Lower limbs are
primarily affected and may become stiff, weak or completely
paralyzed. Patients may also experience loss of coordination.
Women who are carriers of ALD may show symptoms but they are
usually much less pronounced.
There is no cure or treatment to reverse the effects of ALD.
Affected individuals undergo physical therapy and counseling and
are usually enrolled in special education. Genetic counseling is
highly recommended for families with a history of ALD. The form of
ALD may be determined through a comprehensive genetic analysis.
Those with childhood or adult-onset ALD may take advantage of a
new test called Pre-Implantation Genetic Diagnosis (PGD). PGD
tests for genetic abnormalities and can determine the sex of an
embryo prior to implantation. Through this mechanism, the chances
of having an affected child is greatly reduced. Due to complex
inheritance patterns of genetic disorders, an experienced genetic
counselor can determine whether PGD will be beneficial. PGD can
also test for other genetic conditions and is continually being
improved to included more genetic diseases.
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