- 1 What is Adrenoleukodystrophy disease ?
- 2 Adrenoleukodystrophy Causes
- 3 Adrenoleukodystrophy Symptoms
- 4 Adrenoleukodystrophy Diagnosis
- 5 Adrenoleukodystrophy Treatment
- 6 Adrenoleukodystrophy Life expectancy
What is Adrenoleukodystrophy disease ?
This is a detailed description of a very rare disease; Adrenoleukodystrophy.
Adrenoleukodystrophy is a member of a group of diseases from the group leukodystrophies which cause damage to the myelin sheath which protects the nerve cells of the brain. This disease has a direct influence on the progressive system of brain function and the dysfunction of adrenal glands. These glands are responsible for producing certain hormones which control metabolism, blood pressure and fluid balance. It is a very rare genetic disease generally associated with the disruption of certain fats.
In 1910 the first case of this disease was observed by a pair of doctors Spieler and Haberfeld who were examining two brothers. One of them was facing problems with his performance in school work, vision and skin tone. As time passed his conditions became worse and eventually he died. In 1913 doctor Paul Ferdinand Schilder critically examined the brain of these two boys and found that their myelin sheath was damaged.
Ten years after this discovery another patient having the same problem was observed but in this case it had a severe effect on his adrenal glands resulting in physical weakness and performance, as the main function of the adrenal gland is to secrete certain hormones which control other hormones affecting body organs.
Picture : Adrenoleukodystrophy Image
Image source : ADAM Inc
This disease is called X-linked adrenoleukodystrophy because it directly effects x chromosomes by some abnormal gene. Women have double X chromosomes so this disease is less common in them as compared to males who have only one X chromosome and if that one is affected the person would be a sufferer. On this observation, scientists suggested it as an X-linked recessive inheritance.
Neonatal adrenoleukodystrophy is a disease affecting new born children only four weeks old. It is fatal but even rarer. In this type of Adrenoleukodystrophy, the faulty gene is not X-linked, which means it does not affect X chromosomes but other chromosomes and so both males and females are affected.
This disease is passed down from parents to their children as an x-linked genetic trait. As women have double x chromosomes it mostly affects males but it is a very rare disease and only affects 1 in 20,000. This disease builds up a very long chain of amino acids in the brain, which interrupts its function. Myelin is a whitish material that protects nerve cells of the brain and this disease directly destroys them which results in deterioration of the brain’s function.
Those people who suffer from this disease are unable to produce an essential protein called transporter protein that performs a vital role in the breakdown of a very long chain of fatty acids which is taken through our diet. In the absence of this protein, these amino acids accumulate in the brain and damage its nerve cells.
In children symptoms usually appear between the age of four to six. First of all, parents notice changes in the behavior of their child and then these symptoms appear;
- Vision loss
- Problem in doing class work
- Problem in hearing
- Speech problem
- Difficulty in walk
- Swallowing problem
- Deterioration in skin tone called pigmentation
- Progressive dementia eventually leads to death.
Adult –onset symptoms usually appear between the age of 20 to 35 and these symptoms are :
- problems with muscle coordination
- paralysis of the limbs or weakness
- and if unchecked brain function starts to deteriorate.
This third type of X-linked adrenoleukodystrophy affects only the adrenal gland resulting in an inadequacy of secretions from the adrenal gland. It results in neurological abnormality. These symptoms may appear from two years old to adulthood at any stage.
Neonatal Adrenoleukodystrophy symptoms
Its symptoms progress very rapidly and show these signs;
- Poor muscle tone
- Enlargement in liver
- Abnormal facial appearance
- Degeneration of retina
As it is discussed earlier that it is an inherited disease if any one has family history and observes any of its symptoms must consult his physician who will recommend him certain test to diagnose it, such as
1. Blood test
Your blood test report will tell adrenal glands functions, level of long chain of amino acids and also the genetic testing to identify mutation
2. Magnetic resonance imaging (MRI)
MRI uses powerful radiations and sounds to have a clear and vivid picture of brain. This test will help in monitoring the myelin sheath and the damage.
3. Vision screening
Vision screening is recommended to those patients who do not show other symptoms.
4. Skin biopsy and fibroblast cell culture
In this type of test a skin piece is taken for the examination of high levels of very long-chain fatty acids.
There is no proper treatment for this disease. Only supportive treatments are given such as the replacement of adrenal hormones, extra attention at school and physiotherapy. Maximum that can be gained is the reduction of the impacts of its symptoms.
In some cases these treatments are given
- Transplantation of bone marrow.
- Lorenzo’s oil.
- Stem cell transplantation.
If any special treatment for this disease is not available, the only cure is to avoid those food that contain fatty acids and by taking those oils that can lower the level of very long chain of amino acid in blood.
Adrenoleukodystrophy Life expectancy
Life expectancy for a child is very poor because of the progressive myelin degeneration nearly with in one to ten years after the onset of its symptoms
Other forms of this disease are milder.