Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Adrenoleukodystrophy (ALD), also known as Addison-Schilder Disease or Siemerling-Creutzfeldt Disease, is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is one disease in a group of inherited disorders called leukodystrophies. Adrenoleukodystrophy progressively damages the myelin, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without myelin, nerves are unable to conduct an impulse, leading to increasing disability as myelin destruction increases and intensifies.
An essential protein, called a transporter protein, is missing in sufferers. This protein is needed to carry an enzyme which is used to break down very long-chain fatty acids found in the normal diet. Lack of this protein can give rise to a build-up of very long-chain fatty acids, (VLCFA) in the body which can damage the brain and the adrenal gland.
Patients with X-linked ALD are all male, but about one in five women carrying the disease developing a milder form in adult life, called adrenomyeloneuropathy. There are several different types of the disease which can be inherited’ but the most common form is an X-linked condition.
Although this disorder affects the growth and/or development of myelin, 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.
The clinical presentation is largely dependent on the age of onset of the disease. The classical, severe type is the childhood cerebral form which, as an X-linked disease, affects males. Symptoms normally start between the ages of 4 and 10 and include loss of previously acquired neurologic abilities, seizures, ataxia, Addison’s disease, as well as degeneration of visual and auditory function. It has been seen that infants that have been positively diagnosed by the age of 1 year old have usually become very ill by the age of 10 to 12 years of age and die soon after.This severe form of the disease was first described by E. Siemerling and Hans Gerhard Creutzfeldt.[1] A similar form can also occur in adolescents and very rarely in adults. Addison’s disease can be an initial symptom of ALD, and many pediatric endocrinologists will measure very long chain free fatty acids in newly diagnosed males with this condition, as a screening test for ALD.
In another form of ALD which primarily strikes young men, the spinal cord dysfunction is more prominent and therefore is called adrenomyeloneuropathy, or “AMN.” The patients usually present with weakness and numbness of the limbs and urination or defecation problems. Most victims of this form are also males, although some female carriers exhibit symptoms similar to AMN.
Adult and neonatal forms of the disease also exist but they are extremely rare. (These tend to affect both males and females and be inherited in an autosomal recessive manner.) Some patients may present with sole findings of adrenal insufficiency. ALD also causes uncontrollable rage in some cases.[citation needed]
The diagnosis is established by clinical findings and the detection of serum very long-chain free fatty acid levels.[2] MRI examination reveals white matter abnormalities, and neuro-imaging findings of this disease are somewhat reminiscent of the findings of multiple sclerosis. Genetic testing for the analysis of the defective gene is available in some centers.
[tubepress mode=’tag’, tagValue=’Adrenoleukodystrophy’]