Adrenoleukodystrophy (ALD) is one of
a group of genetic disorders called the leukodystrophies that cause
damage to the myelin sheath, an insulating membrane that surrounds nerve cells
in the brain. People with ALD accumulate high levels of saturated, very long
chain fatty acids (VLCFA) in the brain and adrenal cortex because they do not
produce the enzyme that breaks down these fatty acids in the normal manner. The
loss of myelin and the progressive dysfunction of the adrenal gland are the
primary characteristics of ALD. ALD has two subtypes. The most common is the X-linked
form (X-ALD), which involves an abnormal gene located on the X-chromosome.
Women have two X-chromosomes and are the carriers of the disease, but since men
only have one X-chromosome and lack the protective effect of the extra
X-chromosome, they are more severely affected. Onset of X-ALD can occur in
childhood or in adulthood. The childhood form is the most severe, with onset
between ages 4 and 10. The most common symptoms are usually behavioral changes
such as abnormal withdrawal or aggression, poor memory, and poor school
performance. Other symptoms include visual loss, learning disabilities,
seizures, poorly articulated speech, difficulty swallowing, deafness,
disturbances of gait and coordination, fatigue, intermittent vomiting,
increased skin pigmentation, and progressive dementia. In the milder adult-onset
form, which typically begins between ages 21 and 35, symptoms may include
progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although
adult-onset ALD progresses more slowly than the classic childhood form, it can
also result in deterioration of brain function. A mild form of ALD is
occasionally seen in women who are carriers of the disorder. Symptoms include
progressive stiffness, weakness or paralysis of the lower limbs, ataxia,
excessive muscle tone, mild peripheral neuropathy, and urinary problems.
there any treatment?
Adrenal function must be tested
periodically in all patients with ALD. Treatment with adrenal hormones can be
lifesaving. Symptomatic and supportive treatments for ALD include physical
therapy, psychological support, and special education. Recent evidence suggests
that a mixture of oleic acid and erucic acid, known as "Lorenzo's
Oil," administered to boys with X-ALD can reduce or delay the appearance
of symptoms. Bone marrow transplants can provide long-term benefit to boys who
have early evidence of X-ALD, but the procedure carries risk of mortality and
morbidity and is not recommended for those whose symptoms are already severe or
who have the adult-onset or neonatal forms. Oral administration of
docosahexanoic acid (DHA) may help infants and children with neonatal ALD.
is the prognosis?
Prognosis for patients with ALD is
generally poor due to progressive neurological deterioration. Death usually
occurs within 1 to 10 years after the onset of symptoms.
research is being done?
The NINDS supports research on
genetic disorders such as ALD. The aim of this research is to find ways to
prevent, treat, and cure these disorders. Intensive basic research has proposed
two new approaches, 4-phenylbutyrate and lovastatin, which could potentially
lower levels of VLCFA in the brain. Therapeutic trials for both agents are
NINDS health-related material is
provided for information purposes only and does not necessarily represent
endorsement by or an official position of the National Institute of
Neurological Disorders and Stroke or any other Federal agency. Advice on the
treatment or care of an individual patient should be obtained through
consultation with a physician who has examined that patient or is familiar with
that patient's medical history.
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