There are lots and lots of rare diseases all over the world that needs more understanding and further studies. One of which is the adrenoleukodystrophy. Adrenoleukodystrophy is actually part of a group of diseases known as the leukodystrophies. These cause damage to the myelin sheath that protects the nerve cells of the brain. This condition has a direct effect on the progressive system of the brain function as well as the dysfunction of the adrenal glands. This article will tell you about the different causes, symptoms, and treatments for adrenoleukodystrophy. If you want to know all of these and more, then give this article a read.
Adrenoleukodystrophy: What is this condition?
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Adrenoleukodystrophy is actually the term for a group of hereditary pathological illnesses, which mainly affects the nervous system as well as the adrenal glands. There are some other terms for the adrenoleukodystrophy, just like Schilder-Addison complex, childhood cerebral ALD, and adrenomyeloneuropathy.
Moreover, adrenoleukodystrophy is a rare disease which, affects around 1 in every 50,000 individuals. Furthermore, this illness affects intensely males than females. Basically, there are three types of adrenoleukodystrophy and the symptoms that are caused by each of them depends on the type of the condition a patient has.
This mysterious disease seems to strike even without any warning signs. However, most basically, it is explained as a transport of membrane protein metabolism malfunction. This leads to extreme buildup fatty-acids in the tissues of the body. These buildup of fatty acids take place in the myelin sheath of the central nervous system and in the tissues of the adrenal cortex usually. Furthermore, this typically manifests in children in the disease’ cerebral version. However, there is a dormant version, which may develop in adulthood.
Furthermore, the condition is often characterized by the relatively normal development that is followed by a dramatic reversion to a somatic state. The condition is obviously serious. Hence, it is important to consult your doctor when symptoms are already present. Also, an important thing to think about is that this condition has no known cure yet.
There are basically three types of the condition, and they are the following:
- Addison disease: this is a form of adrenoleukodystrophy that is caused by the adrenal insufficiency.
- Adrenomyelopathy: this mainly affects males. Furthermore, this is also a much milder form of the condition and has a slower progression.
- Childhood Cerebral Adrenoleukodystrophy: this is mainly common for children ages 3 to 10. Furthermore, this progresses rapidly and its results may be severe and in some rare cases, it may also lead to death.
Causes of Adrenoleukodystrophy
The ADLP or adrenoleukodystrophy protein is beneficial for the body’s breaking down of fatty acids. When the protein does not do its won job, fatty acids may accumulate inside the body, thus causing harm to the outer level of the cells in the:
- Adrenal glands,
- Bran, and
- Spinal cord.
Those with adrenoleukodystrophy have gene mutations, which makes adrenoleukodystrophy protein. Hence, their bodies are not able to make enough adrenoleukodystrophy.
Symptoms of Adrenoleukodystrophy
The symptoms of adrenoleukodystrophy may vary, depending on what type it is.
Symptoms of Addison
- Discoloration of the skin
- Muscle weakness
- Reduced muscle mass
- Unintentional weight loss
- Poor appetite
Symptoms of Adrenomyelopathy
- Vision problems
- Problems with focusing and thinking
- Stiffness of the legs
- Muscle weakness
- Poor urinary control
Symptoms of Childhood Cerebral Adrenoleukodystrophy
- Hyperactivity disorder
- Vision problems
- Trouble in comprehension
- Loss of hearing
- Muscle spasms
Diagnosis of Adrenoleukodystrophy
The symptoms of adrenoleukodystrophy can imitate some other diseases. Various tests are required in distinguishing the adrenoleukodystrophy from any other neurological problems. When you go to your doctor, he or she may advise you for a blood test to:
- Find a genetic mutation, which causes adrenoleukodystrophy
- Check your adrenal glands
- Search for strangely high levels of VLCFAs
Furthermore, your own doctor may search for a damage to your brain as well. This is by the use of MRI scanning. A biopsy or skin samples, as well as fibroblast cell culture, may also be beneficial for the test of VLCFA.
Treatments for Adrenoleukodystrophy
As stated earlier, there are no known treatments for adrenoleukodystrophy. However, there is stem cell transplantation, which may be beneficial in stopping the progression of the adrenoleukodystrophy. They do this when the neurological symptoms first occur. Your doctor will focus on relieving the symptoms and slowing down the progression of the disease.
The treatments for adrenoleukodystrophy that you can use in relieving its condition include:
- Genetic counseling: this includes not just you, but your family as well.
- Physical therapy: this may help in relieving the muscle spasms and reduce the rigidity of the muscles.
- Medications: there are prescribed medicines that are beneficial in relieving the symptoms, just like seizures and stiffness.
- Adrenal insufficiency treatment: this is beneficial in supplying enough adrenal gland.
- Stem cell transplant: this treatment is beneficial in slowing down or halting the progression of the condition in children. This can be taken from a bone marrow by way of a bone marrow transplant.
With the proper medications, lifestyle changes, and positive mindset towards the condition, it is not impossible to prevent adrenoleukodystrophy or to cure it and live a normal life.