What is Adrenoleukodystrophy?
Adrenoleukodystrophy is the name given to a group of inherited pathological conditions which affect the nervous system and adrenal glands. Some of the other names for Adrenoleukodystrophy are adrenomyeloneuropathy, childhood cerebral ALD, and Schilder-Addison complex. Adrenoleukodystrophy is a rare condition and affects about 1 in 50,000 people. This condition affects profoundly males than females. There are basically three types of Adrenoleukodystrophy which have been delineated below and the symptoms caused by them are variable and depend on the type of Adrenoleukodystrophy the patient has.
The treatment for Adrenoleukodystrophy also depends on the severity of the condition and the type of Adrenoleukodystrophy that the patient has. On the whole, Adrenoleukodystrophy is not totally curable but the progression of the disease can be slowed down by treatment.
What are the Types of Adrenoleukodystrophy?
There are basically three types of Adrenoleukodystrophy:
Childhood Cerebral Adrenoleukodystrophy: This type of Adrenoleukodystrophy is found mainly in children between ages 3 and 10 years. This form of disease has a very rapid progression and results in severe disability for the child and in some cases even death.
Adrenomyelopathy: This type of Adrenoleukodystrophy basically affects males. This is a much milder form of Adrenoleukodystrophy and has a much slower progression.
Addison Disease: This is yet another form of Adrenoleukodystrophy and is caused due to adrenal insufficiency.
What are the Causes of Adrenoleukodystrophy?
The adrenoleukodystrophy protein present in the body helps the body break down long chain fatty acids. Due to some abnormality when this does not take place, it results in accumulation of fatty acids in the body which over time starts harming the outer cells of the spinal cord, brain, adrenal glands, nd testes.
Adrenoleukodystrophy is caused due to mutations in gene that make Adrenoleukodystrophy protein and the body is not able ot make enough protein to break down fatty acids resulting in Adrenoleukodystrophy. This condition as stated above affects males in general than females meaning that the gene causing this condition is in chromosome X. Females having this gene mutation will have much milder symptoms or may not have any symptoms at all than males.
What are the Symptoms of Adrenoleukodystrophy?
Symptoms of childhood cerebral Adrenoleukodystrophy which is the most rapidly progressive and dangerous form of Adrenoleukodystrophy is:
- Muscle spasms
- Hearing loss
- Trouble with comprehension
- Vision problems
- Hyperactivity disorder
- In some cases coma.
The symptoms of Adrenomyelopathy which is the second type of Adrenoleukodystrophy include:
- Poor urinary control
- Muscle weakness
- Stiffness in the legs
- Problems with thinking and focus
- Vision problems.
Symptoms of Addison which is the third type of Adrenoleukodystrophy are:
- Poor appetite
- Unintentional weight loss
- Decreased muscle mass
- Muscle weakness
- Discoloration of skin.
How is Adrenoleukodystrophy Diagnosed?
The symptoms of Adrenoleukodystrophy may be similar to other medical conditions as well hence the doctor will first attempt to rule out other conditions before zeroing on Adrenoleukodystrophy. For this the doctor will order blood test to look for
- Abnormally high levels of very long chain fatty acids
- Check the status of the adrenal glands
- Genetic test to identify genetic mutation which causes Adrenoleukodystrophy.
The doctor may also order an MRI of the brain to look for any damage done to the brain due to Adrenoleukodystrophy. A skin biopsy may also be done in some cases to look for elements of very long chain fatty acids.
All these tests will not only rule out other medical conditions causing symptoms but also confirm the diagnosis of Adrenoleukodystrophy.
How is Adrenoleukodystrophy Treated?
The treatment for Adrenoleukodystrophy depends on the severity of the disease and the type of Adrenoleukodystrophy. For Addison Disease, steroids have been found to be effective. For other types of Adrenoleukodystrophy there has not been any effective treatment found as of yet although some people have shown improvement with the following
- Having a diet that has very low levels of fatty acids
- Taking Lorenzo oil which has shown to reduce the levels of very long chain fatty acids
- Medications for seizures
- Physical therapy for strengthening muscles and reduce muscle spasms.
What is the Prognosis of Adrenoleukodystrophy?
Childhood Cerebral Adrenoleukodystrophy is an extremely dangerous and rapidly progressive disease process and the prognosis for it is quite poor. Even if the child with Childhood Cerebral Adrenoleukodystrophy survives, the child will be severely disabled.
The other types of Adrenoleukodystrophy are not so rapidly progressive and hence the symptoms can be controlled but as of now there is no cure for Adrenoleukodystrophy.