Adrenoleukodystrophy refers to a hereditary condition type that is involved in destroying myelin sheth. This membrane or sheath works to insulate the nerve cells present in the area of your brain. Your body becomes unable to break down very long-chain fatty acids (VLCFAs) in adrenoleukodystrophy.
As a result, VLCFAs start building up in the area of your brain, adrenal gland, and nervous system. X-linked ALD is considered the common type of ALD. A genetic defect appears in the X chromosome that causes this condition.
X-linked ALD can severely affect men as compared to women who carry this disease. There are different forms of X-linked ALD. These forms are given below.
- Childhood-Onset ALD: This form appears between the age of four to ten years. The white matter present in the area of the brain starts damaging progressively. Symptoms of this damage can become worse over time. If it is not properly diagnosed on time, individuals with childhood-onset ALD can die within the next five to ten years.
- Addison’s Disease: Hormone-producing glans that are adrenal glands fail to produce the normal amount of steroids in people who carry ALD. It leads to a form of X-linked ALD that is called Addison’s disease.
- Adrenomyeloneuropathy: It is an adult-onset form of X-linked ALD. But this form is not severe much as compared to others. It progresses slowly and causes symptoms such as bowel and bladder dysfunction and stiff gait. Women with ALD can experience adrenomyeloneuropathy’s mild form.
Diagnosis
Doctors review your symptoms in order to diagnose ALD. They ask you about your family and medical history. A doctor can conduct a physical exam and suggest different tests. Some of these tests are described below.
- Blood Testing: Tese tests are conducted to detect the high levels of VLCFAs. They are the main indicators to detect adrenoleukodystrophy. Doctors often use blood samples in order to conduct genetic testing. Through these tests, they detect mutations or defects that can lead to ALD. Your doctor can also order a blood test in order to evaluate if your adrenal gland is working properly or not.
- MRI: Radio waves and powerful magnets work to create the images f your brain in detail. MRI scans show these images. It helps doctors to identify abnormalities in the area of your brain. These abnormalities can indicate adrenoleukodystrophy including destruction to the area of nerve tissue. Your doctor can use different MRIs in order to get detailed images of the area of your brain. He or she can also diagnose early symptoms of leukodystrophy.
- Vision Screening: Measuring certain visual responses helps to monitor the progression of the diseases in males who don’t show any symptoms.
- Skin Biopsy And Fibroblast Cell Culture: In this test, your doctor can take a small sample of your skin in order to identify the enhanced levels of VLCFA.
Treatment
There is no proper cure known for adrenoleukodystrophy. But stem cell transplantation may help to stop the progression of adrenoleukodystrophy if doctors do it after the first appearance of neurological symptoms.
The doctor’s main focus is relieving your symptoms and making the progression of the disease slow. Following are the options of treatment for adrenoleukodystrophy.
- Stem Cell Transplant: It may help to slow the adrenoleukodystrophy’s progression in children in case if doctors have diagnosed this disease early and the child is taking early treatment. Doctors can take stem cells from the area of bone marrow using bone marrow transplants.
- Adrenal Insufficiency Treatment: Many people with adrenoleukodystrophy can experience the symptoms of adrenal insufficiency. They should have regular testing for the detection of adrenal gland insufficiency. Steroids can effectively treat this condition.
- Medications: Your doctor can give you medications in order to relieve your symptoms including seizures and stiffness.
- Physical Therapy: It helps to decrease the rigidity in the muscles. Moreover, it is effective in relieving muscle spasms. If needed, the doctor can suggest the patient’s mobility devices or wheelchairs.
Gene therapy is used to treat boys with early-stage cerebral adrenoleukodystrophy in clinical trials. This treatment was used as an alternative to the treatment called stem cell transplantation. Doctors are sure that gene therapy gives early results.
Progression of disease was stabilized in 88 percent cases of boys who have to take this treatment in the clinical trial. To get long-term results, additional research should be conducted in this area.