Adrenoleukodystrophy is a rare hereditary metabolic disorder. It causes various neurological complaints.

What is adrenoleukodystrophy?

Adrenoleukodystrophy (ALD) is also known in medicine as Addison-Schilder syndrome. It shows in childhood and is counted among hereditary diseases.

Adrenoleukodystrophy (ALD) is also known in medicine as Addison-Schilder syndrome. It shows in childhood and is counted among hereditary diseases. It is characterized by a rapidly progressing neurological decay, in the final phase it comes to dementia and to the loss of vital body functions.

The often fatal disease almost always appears only in males. By contrast, women are usually only involved in the transmission of x-linked recessive disease. Only in rare cases is there a defect in both female X chromosomes that causes the onset of adrenoleukodystrophy. In males, the incidence of ALD is 1: 20, 000 to 1: 50, 000.

causes

Due to a genetic error, certain fatty acids in the organism can not be broken down. This affects both the brain and the spinal cord. Damage to the adrenals also occurs.

Genetic studies revealed that all patients had mutations within an ABC transporter gene. This gene is located on the X chromosome, gene locus q28. Its task is to code a protein that is in the membrane of the peroxisomes.

Its direct involvement in the transmission of long-chain fatty acids in the direction of peroxisomes, however, is controversial among medical professionals. Normally, the breakdown of fats takes place inside the peroxisome. In adrenoleukodystrophy, however, the fatty acids accumulate in the white matter and in the adrenal cortex.

The long-chain fatty acids also accumulate in the cell membranes. Some researchers therefore consider that the membrane structure of myelin changes in ALD patients, which explains demyelinisation. In this way, the impulses are prevented from being transmitted, which is ultimately noticeable by the motor and mental decay of those affected.

Symptoms, complaints & signs

Whether adrenoleukodystrophy causes symptoms depends on the sex of the patients. Thus, the altered gene is always on the X chromosome, which is present only once in men. For this reason, the suffering is almost exclusively in male patients.

Since women have two X chromosomes, but the faulty gene is usually only on one of them, they often do not even notice that they have a hereditary disease. However, there is a 50% risk of adrenoleukodystrophy in their male offspring. Complaints almost always occur only in male patients.

In contrast, impairments in women are rare and occur later in life. In the male patients, the adrenal glands no longer produce enough hormones. Therefore, they suffer from low blood pressure, loss of weight, weakness and vomiting.

In addition, there is a brownish discoloration of the skin. In some patients, apart from adrenal weakness, there are no other symptoms for years to come. Doctors distinguish between two forms in adrenoleukodystrophy. These are adrenomyeloneuropathy (AMN) and ALD with cerebral involvement. The AMN is considered a milder form of ALD and is found in almost all adult men who have an ALD inheritance.

Typical signs include coordination difficulties, muscle weakness that leads to gait disturbances, and leg pain. Later urine and stool loss, erectile dysfunction and paralysis are possible. Many patients require a wheelchair as the disease progresses.

An ALD with brain involvement occurs in every third sick boy between the ages of three and twelve. This shows a severe inflammation of the brain, which continues to progress. The affected children, who have previously developed normally, suddenly show behavioral changes such as restlessness and lack of concentration. Finally, dysphagia, paralysis, deafness and blindness set in. Not infrequently, the disease ends with death.

Diagnosis & History

A diagnosis of adrenoleukodystrophy is considered difficult because the symptoms can also be caused by other conditions. Sometimes it takes several years to get the right diagnosis. The safest method is a blood test to determine the altered genetic makeup.

In addition, imaging techniques such as Magnetic Resonance Imaging (MRI) of the skull can be used to help the physician identify demyelinated and atrophic brain areas. The prognosis of adrenoleukodystrophy depends on the respective course. For example, life expectancy at AMN is considered normal, whereas brain involvement after two to four years is associated with severe disability and long-term care.

complications

As a genetic metabolic disease that does not degrade essential fatty acids in the body, adrenoleukodystrophy causes severe neurological damage. Partly the disease breaks out already in infancy. The mental and sensorimotor development has considerable deficits. The life expectancy of affected children is between 10 and 14 years.

Adrenoleukodystrophy settles on the X chromosome. Men are therefore more at risk than women. When the symptoms occur in adults is unpredictable. Women, on the other hand, do not belong to the risk group until late in life. Anyone who is prone to adrenoleukodystrophy due to familial attachments in his genome should seek immediate medical attention for signs such as adrenal gland disease, fatigue, weight loss, nausea, brownish skin discoloration.

Otherwise, there are inevitable incisive complications that negatively affect quality of life and life expectancy. The terminal stage can be associated with bed-rest, total degeneration of the nervous system and failure of the organs. Sometimes this leads to death. If the diagnosis is adrenoleukodystrophy, the symptoms can be alleviated but not cured.

Therapy and medications are tailored to the person affected because the disease has different specifications. The medication alleviates spastic muscle spasms and can make the neurological side effects and inflammatory processes in the brain more bearable. Nutritionally, Lorenzo's oil is administered to lower the increased fatty acid concentration. Depending on the condition of the patient, a bone marrow transplant is performed.

When should you go to the doctor?

As a rule, adrenoleukodystrophy does not result in specific and specific symptoms or symptoms that may directly indicate the disease. For this reason, it is always necessary to consult a doctor to avoid possible consequential damage that could occur if the disease is detected late. If the person is suffering from weight loss and low blood pressure, a doctor must be consulted.

Not infrequently, it can also lead to loss of consciousness. As a rule, the general practitioner can first be consulted, who, in the case of a diagnosis, refer the patient to a specialist. An urgent visit to the doctor is advisable if coordination or gait disturbances continue to occur. Similarly, hearing problems may indicate adrenoleukodystrophy.

If adrenoleukodystrophy has progressed further, paralysis or urine loss will also occur. When these symptoms occur, urgent treatment of the patient is necessary. Not infrequently, in addition to deafness, there are also sudden symptoms of vision or, in the worst case, complete blindness.

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Treatment & Therapy

A cure of adrenoleukodystrophy is not possible. The therapy is therefore limited to alleviating the symptoms. Thus, the failure of the adrenals is well treatable by the administration of missing hormones. The patient also gets medicines for spastic muscle spasms.

Some patients also receive so-called Lorenzos oil. It is a mixture of glycerol trierucate and glycerol trioleate. The ratio is 4: 1. By administering the concentration of the over-long-chain fatty acids should be lowered to a more favorable level.

In addition, physiotherapeutic exercises or occupational therapy can be used to help loosen the muscles. In the case of dysphagia, an artificial diet is feasible. Likewise, psychotherapeutic care can be useful.

Outlook & Forecast

Adrenoleukodystrophy generally causes the patient to feel ill and weak, and the patient's ability to cope with the disease is significantly reduced. It comes to a low blood pressure and thus to a paleness on the face. Furthermore, the low blood pressure can also lead to a loss of consciousness. The affected person often loses weight and also suffers from diarrhea and vomiting.

The skin may turn brownish. There is also pain in the muscles and legs. The coordination decreases and there are often gait disturbances, so that the affected person limps or hobbles, for example. Quality of life is significantly reduced and reduced by the symptoms of adrenoleukodystrophy.

In the course of the disease, patients often depend on the help of others or the use of a wheelchair. The concentration also decreases and there is an inner restlessness. Without treatment it comes to the death of the patient. The treatment itself can be carried out by administering the missing hormones, without causing any particular complications.

prevention

If adrenoleukodystrophy is known in a family, it is recommended that all male members be examined. In this way, early treatment can be provided if necessary.

aftercare

As a rule, the options for follow-up with adrenoleukodystrophy are relatively limited. The affected person is dependent on a lasting treatment for this disorder in order to alleviate the symptoms and to avoid further complications. An early diagnosis and treatment have a very positive effect on the further course of the disease.

In most cases, adrenoleukodystrophy is treated by taking the hormones that the person is missing. In doing so, the patient has to pay attention to a regular intake of the drugs, whereby also possible interactions with other medicines should be considered. In the case of children, parents must take regular medication so that it does not cause any problems or complications.

Furthermore, most patients rely on physiotherapy to relieve muscle discomfort. Many of the exercises from this therapy can also be performed in one's own home in order to increase the mobility of the affected person. The life expectancy of the patient is not adversely affected by this disease.

Since adrenoleukodystrophy can sometimes lead to mental complaints or depression, conversations with friends or with one's own family make sense.

You can do that yourself

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease in which men suffer significantly more than women.

There are no self-help measures that are suitable for causally treating the disease. However, those affected can help control the risks and mitigate the severity of the disease. Although many symptoms of the disease can be treated well, those affected often receive treatment too late, because the disease, which is very rare, has not been correctly diagnosed.

If ALD has already occurred in a family, patients should alert a physician to this fact and insist that a specialist be consulted to clarify the suspicion of ALD.

Women who are carriers of the defective gene must be aware that they either will not even get sick or develop mild symptoms themselves, the likelihood that their male offspring will suffer from a severe form of ALD, but is very large. This should be considered in family planning. For carriers of hereditary diseases, there are counseling centers that support them with questions about family planning.

Patients who are already ill should use a low-fat diet to keep the level of harmful fatty acids in the blood low. Physiotherapy should be started as soon as possible to prevent degenerative development if muscle or motor function is impaired.

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