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When you or a loved one are diagnosed with a serious condition like ALD, you need the best information you can find and you need it now. That's why, here at YourDNA.com, we've done the research for you and put what you need to know in terms you can understand.
What's in this Guide?
- Quick Overview
- What Is Adrenoleukodystrophy (ALD)?
- ALD Cause
- ALD Symptoms
- ALD Diagnosis
- ALD Treatment Options
- ALD Prognosis
- ALD Outlook
Disclaimer: Before You Read
It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.
Genetics is a quickly changing topic. Read More...
Adrenoleukodystrophy, known to most as ALD, is a hereditary condition. It primarily affects the brain but can have an impact on other functions of the body as well. It is an X-linked metabolic disorder.
The people who discovered adrenoleukodystrophy are Dr. Patrick Aubourg and Dr. Jean-Louis Mandel of France and Dr. Hugo Moser in the U.S. The gene was first discovered in 1993.
What Is Adrenoleukodystrophy (ALD)?
The basic adrenoleukodystrophy definition 1 is a genetic disorder that causes damage to nerve fibers in the brain.
It particularly impacts the myelin sheath which acts as a fatty covering for the nerve fibers. It is essentially an electrical insulator. With your body unable to break down fatty acids, the fat builds up within the adrenal gland, brain, and nervous system.
How Does ALD Affect the Individual?
The question of what does ALD do to the body varies for everyone. Each person may experience different symptoms. Even two members of the same family with the disease can be affected differently.
Some may experience behavioral problems, including difficulty concentrating. Others may start to lose their vision or hearing. It is possible to experience seizures, a loss of muscle control, and even dementia.
Different Forms of ALD
There are three forms of ALD. The first and most common is childhood-onset ALD. Children between the ages of 4 and 10 may show symptoms. Death can occur within 5 to 10 years if it is not diagnosed early enough. The brain becomes severely damaged and only gets worse over time.
Addison’s disease is the second form. The adrenal glands responsible for producing hormones do not produce an adequate amount of steroids. There may not be enough cortisol or aldosterone in the body. This causes an adrenal deficiency that can lead to failure and eventually death.
The third form is Adrenomyeloneuropathy. It is an adult-onset form of ALD that is less severe than the other two. It progresses much more slowly. You may experience dysfunction of your bowel and bladder as well as a stiff gait. The women who develop this disease tend to have these problems.
Learning what causes adrenoleukodystrophy can help you understand more about the disease and how it develops. The root cause of ALD is a gene abnormality.
ALD is known as an X-linked disorder because an abnormality of the ABCD1 gene found on the X chromosome is the culprit of the disease.
The role of peroxisomes in ALD is important to understand because the production of an abnormal protein in this area of the cell causes problems. The very long chain fatty acids are supposed to be broken down.
Due to the abnormality, this can no longer happen as intended. The fatty acids instead build up and cause damage to the brain and other areas of the body, such as the adrenal glands.
How Is ALD Inherited?
The chances of getting ALD are slim, but they are there. ALD statistics provided by the ADL Foundation show that 1 in every 17,900 boys will get the disease. The infected X chromosome gets passed down through a parent’s genes to their children. You may wonder if the mutation is a dominant or recessive gene. ALD is an X-linked recessive genetic disorder.
Quite a few ALD symptoms can occur, depending on the severity of the case 2. Some may not experience these symptoms until the disease has progressed further, while others experience them early on.
There are both minor symptoms and more severe ones. Mild ALD (adrenoleukodystrophy) symptoms include:
- Difficulty reading and writing
- Difficulty speaking and understanding speech
- Aggressive behavior
- Vision problems
- Difficulty swallowing
- Poor coordination
- Weakness in the legs
- Muscle stiffness
- Muscle spasms
- Urinary tract disorders
- Changes in behavior and thinking
- Decreased muscle mass
- Poor appetite
- Weight loss
- Dark patches of skin
More severe symptoms, often because of cerebral ALD, include:
- Psychiatric disorders
Do ALD Carriers Have Symptoms?
Adrenoleukodystrophy symptoms can be exhibited by those who only carry the gene and do not actually have the full-on disease themselves. This typically happens with women.
There may be a loss in motor functioning or some minor cognitive impairments, but carriers should otherwise experience a normal quality of life.
Who Does Adrenoleukodystrophy Mostly Affect?
ALD mostly affects children. Childhood adrenoleukodystrophy is the first and most common cause, though ALD disease in adults is possible. Adults can experience symptoms and develop a form of the disease as well, but symptoms tend to be slower to develop. ALD tends to affect boys more so than girls.
Why Does ALD Typically Impact Boys?
Females have two X chromosomes. Even if they receive a mutated version, they can still have a particularly healthy one as well. They may never show symptoms of ADL.
Boys, however, have an X and Y chromosomes. With only one X chromosome to be infected, they are more likely to experience symptoms and have the disease.
Can Females Have ALD?
Females can have ALD. Adrenomyeloneuropathy in females is much less common, but it is possible.
Typically, only minor symptoms will be exhibited, such as poor motor functioning. It is more likely that she would then pass on the disease to her sons instead of suffering from it herself.
An adrenoleukodystrophy diagnosis should be provided by an adrenoleukodystrophy specialist. He or she will be able to correctly identify the symptoms correlated to the disease.
Your doctor may recognize some symptoms and perform tests to help begin the diagnosis process, but a specialist should truly be consulted to ensure accurate results as well as help you learn more about the disease and how to live with it.
How Is ALD Diagnosed?
You will have to get a blood sample taken. You should fast for roughly 8 hours before this sample is taken for the most accurate results. This means no eating or drinking anything except for water.
An adrenoleukodystrophy doctor may also want to perform genetic testing for further evaluation. It is best to look at all the symptoms and details to determine which form of ALD you may have.
Checking the adrenal glands, assessing genetics, evaluating symptoms, and looking for high levels of VLCFAs in the blood are all necessary for the proper diagnosis of this disease.
Are Newborns Tested for ALD?
Newborns are now tested for ALD. The newborn screening test 3 was added to the Recommended Uniform Screening Panel in the United States in 2016. The state of New York was the first to use the test in 2013.
The Netherlands followed suit and added the screening to their newborn checklist as well. In 2019 and beyond, additional locations will begin adding the screening process also, once protocols and resources are set in place.
The screening for X-linked adrenoleukodystrophy looks at dried blood spots on a filter paper 4. The doctor pokes the newborn’s heel and presses it to the paper to get the blood samples.
This heel stick can help to check for numerous conditions and diseases so preventive measures can be taken.
Newborns with the potential to develop ADL may have an excess of lysophosphatidylcholine containing hexacosanoic acid in their blood.
Genetic Tests Currently Available for Adrenoleukodystrophy
Genetic testing for adrenomyeloneuropathy needs to be done through a genetic specialist. They will be able to look at DNA and determine if patients are carriers of the disease and could pass it on to their children.
Anyone hoping to start a family may want to get genetic testing of this nature done to determine if ADL or any other diseases are a possibility for their family. It may help to make the final decision of whether to try naturally or look into adoption.
ALD Treatment Options
First, we should ponder the question, is there a treatment for ALD? The answer is sort of. There are treatment options available that can help to reduce the symptoms.
There is no full adrenoleukodystrophy treatment that cures the disease completely. Living with ALD and learning how to lead the best quality of life possible is the best solution.
Gene therapy and blood or bone marrow transplants are commonly used treatment options for patients with ALD. They only work to reduce particular problems caused by ADL and will not fully cure the disease.
Adrenoleukodystrophy treatment, Lorenzo's oil, is also a possibility 5. Out of 89 patients studied and treated with this method, only 24% of them showed adrenoleukodystrophy MRI results. Those who did were under the age of 7 when they started the treatment.
Children who took the treatment at an older age did not experience these MRI abnormalities afterward.
How Does Blood or Marrow Transplant (BMT) Work for ALD?
In order to stop the disease from causing more damage, a blood stem cell transplant or bone marrow transplant may be necessary. It introduces healthy cells into the body to replace the unhealthy ones that are missing an essential protein.
It will allow the body to break down the fats it previously could not. This treatment option will prevent further damage to the nervous system, spinal cord, or brain, but it won’t erase any damage already caused.
The full process from the beginning stages to recovery can take months.
What if My Child Was Diagnosed too Late for a Transplant?
It is best to get a diagnosis as soon as symptoms start to arise so the transplant option is still a possibility. However, If your child was diagnosed too late for a transplant, then Lorenzo's oil may be the next best option to try.
The oil is extracted from rapeseed oil and olive oil. It is essentially a combination of the two fats. Lorenzo, the child of Augusto and Michaela Odone, was treated with this combination back in 1982. The fatty acids in this oil reduce the levels of very long chain fatty acids that cause harm in those with ALD.
An adrenoleukodystrophy prognosis is not an ideal one. The ALD disease life expectancy is usually very low for children especially.
People who are told they have ALD typically live for around five years afterward unless the onset did not occur until adulthood when the development is slower than usual.
What Is the Life Expectancy of Someone With ALD?
People diagnosed with ALD will often have the question, “is it fatal?” This is going to come to mind anytime a serious diagnosis is given. ALD is, in fact, a fatal disease. Within two to five years 6 after you receive a diagnosis, you may become permanently disabled.
Eventually, the disease may take your life. It is important that additional research and funding be provided to aid in the treatment and prevention of ALD so it does not continue to remain a fatal sentence for anyone diagnosed.
Is ALD Curable?
At this time, ALD is not a curable disease. There are minor treatment options that can help with some of the symptoms and complications of adrenoleukodystrophy, but the disease cannot be erased.
Once you have it, you will always be affected by it. An adrenomyeloneuropathy cure may never be possible, but additional research into the disease and our genes can help to find more advanced treatment options.
Can ALD Be Prevented?
The only prevention method possible for ALD is by carriers getting a genetic test and choosing not to have children. If they do not have children, they do not have anyone to pass the gene onto. Otherwise, it is not possible to prevent a disease like this.
The outlook is not great on ALD. You may have a question regarding what is the current status of research on adrenoleukodystrophy. The answer is that research has been underway for many years, yet there are still no cures or long-term treatment options for the disease.
You can find ALD support groups that can help you or your family cope with the disease and learn how to live life to the fullest even while having ALD. Caregivers may benefit greatly from these groups so they can best learn how to care for their affected family member and keep them as comfortable as possible.
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Mayo Foundation for Medical Education and Research (MFMER). 2019.
- X-linked Adrenoleukodystrophy.
Genetics Home Reference. U.S. National Library of Medicine. 2019.
- Newborn screening.
Rachel Salzman, DVM (CSO, The Stop ALD Foundation) and Stephan Kemp, Ph.D., 8 May 2019.
- Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.
Hubbard WC, Moser AB, Tortorelli S, Liu A, Jones D, Moser H, Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 2006, Sept-Oct.
- Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.
Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A. Kennedy Krieger Institute. Jul 2005.
- WHAT IS ALD?
THE STOP ALD FOUNDATION. 2019.