Adrenoleukodystrophy
A (really really) short introduction
- also known as Schilder's Disease and Sudanophilic Leukodystrophy
- is a rare inherited disorder that leads to progressive brain damage, failure of the adrenal gland and eventually death
- belongs to a group of inherited disorders called Leukodystrophies
- its damages the myelin which insulates many nerves of the central and peripheral nervous systems
- An essential protein, called a transporter protein, is missing in sufferers
- protein is needed to carry an enzyme which is used to break down long chain fatty acids found in our diet
- victims of ALD are nearly always male
- several different types of the disease can be inherited in two different ways
- It is more commonly inherited as an X-linked condition.
- Leukodystrophies are different from demyelinating disorders such as multiple sclerosis where myelin is formed normally but
is lost by immunologic dysfunction or for other reasons
Symptoms
childhood cerebral form
- occurs in males between the ages of 4 and 10
- can also occur in adolescents
- very rarely in adults
- symptoms: failure to develop
- seizures
- ataxia
(dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum)
- adrenal insufficiency
- degeneration of visual
- degeneration of auditory function
Another form of ALD- adrenomyeloneuropathy, or "AMN"
- primarily strikes young men
- prominent spinal cord dysfunction
- usually present with weakness and numbness of the limbs
- urination or defecation problems
* Most victims of this form are also males, although some female carriers exhibit symptoms similar to AMN
Adult and neonatal form
- affect both males and females
- inherited in an autosomal recessive manner
- extremely rare
- adrenal insufficiency (Addison's disease)*
- uncontrollable rage ( only in some cases)
*
Addison's disease: a rare endocrine disorder in which the adrenal gland produces insufficient amounts of steroid hormones
Diagnosis
-established by clinical findings and detection of serum long chain fatty acid levels
- MRI examination reveals white matter abnormalities
- neuroimaging findings are quite reminiscent of the findings of multiple sclerosis
- Genetic testing for the analysis of the defective gene
Sunday, March 2, 2008
1:17 AM
What is Adrenoleukodystrophy?
Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath. 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.
The most common is the X-linked form (X-ALD), which involves an abnormal gene located on the X-chromosome. Men are more severely affected by (X-ALD). Women have two X-chromosomes and are the carriers of the disease, whereas men only have one X-chromosome and lack the protective effect of the extra X-chromosome.
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.
Benjamin Zhang