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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. |
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Clinical Research on Adrenotab |
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Adrenotab
Guarantee |
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