ADRENOLEUKODYSTROPHY (ALD) – Symptoms, treatment and causes

Adrenoleukodystrophy is a genetic condition that is linked to the X – chromosomes and it damages myelin sheet (a membrane that insulates nerve cells) in your brain. This damage causes hyperactivity and seizures.

adrenoleukodystrophy

ALD also affects adrenal glands.

This disorder occurs primarily in the male gender. It’s very rare in females.

There are different forms of X-linked ALD and they include;

  • Childhood ALD – This type of ALD occurs between the ages of 3 – 10 years. It causes progressive damage to the white matter of the brain. This disorder can cause severe disability if not diagnosed early and eventually lead to death below the age of 10 years.
  • Adrenomyeloneuropathy – This type of ALD affects adult people. It progresses slowly and is less severe. Its symptoms are stiff gait and bladder and bowel dysfunction.
  • Addison’s disease – This is a form of ALD that occurs when adrenal glands fail to produce enough hormones.

SYMPTOMS OF ADRENOLEUKODYSTROPHY

The symptoms of adrenoleukodystrophy can defer due to the difference in the type of ALD the person might be having.

Each of the three types of ALD shows different signs and symptoms.

The symptoms of adrenoleukodystrophy include;

Symptoms of childhood ALD

  • Seizures
  • Trouble swallowing things
  • Vision impairment
  • Muscle spasms due to electrolyte abnormalities
  • Increased hyperactivity
  • Paralysis due to nerve damage
  • Hearing impairment
  • Fine motor control wears off
  • Coma

Symptoms of Addison’s disease

  • Reduced appetite
  • Muscles weaken up
  • Coma
  • Muscle mass wears off
  • Weight loss
  • Vomiting
  • Skin pigmentation

Symptoms of Adrenomyeloneuropathy

  • Stiffness of legs
  • Muscles weaken up
  • Inability to control urination urges
  • Memory deterioration

DIAGNOSIS OF ADRENOLEUKODYSTROPHY

For the perfect diagnosis of adrenoleukodystrophy, the doctor will examine your signs and symptoms first to determine the possibility of having any ALD symptoms.

After identifying the link between your symptoms and ALD, the following tests will be carried out;

  • Magnetic resonance imaging (MRI) – This involves the use of strong magnetic waves and sound waves to get the images of your brain. The images obtained will help in determining if there is any damage to the brain.
  • Blood test – This test will be used to test the level of long-chain fatty acids in your blood which can tell either you have ALD or not. If the level of long-chain fatty acids is high in your blood, the conclusion is you have the disease.  A blood test can also be used to find out the existence of any defects or mutations associated with ALD.
  • Newborn screening – This was recommended in 2016 and was a rule for diagnosis of adrenoleukodystrophy in all newborn babies in the United States. This test is very beneficial as it assists in identifying this disease earlier and treatment will be done before it gets worse.
  • Vision screening – A doctor can resort to measuring your visual responses and compare with other people who are not infected. This will give him a clue if the disease really exists or not.
  • Skin biopsy – Doctors will remove a small sample of your skin ad take it to the lab for testing.

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TREATMENT OF ADRENOLEUKODYSTROPHY

Adrenoleukodystrophy has no cure. However, if identified earlier doctors can use stem culture to stop the disease from progression.

The methods that can be used for the treatment of adrenoleukodystrophy are;

  • Stem cell transplant – This the common and most effective method used in the treatment of adrenoleukodystrophy used to stop the progression of ALD. During this treatment, the patient will be given blood stem cells from an exact matched donor. Before the stem cell transplant is done, the victim will be put under chemotherapy treatment to prepare the body to receive the donor cells. This method has disadvantages which include; there can be difficulty in getting the exact match donor, there’s a high risk of getting other infections and the disease still progresses for 6 – 18 months after the transplant.
  • Gene therapy – This is a potential new method used in the treatment of ALD but it has not yet been launched officially but at the trial phase, it has shown incredibly positive results. This treatment is just the same as stem cell but here it is the victim’s cells that are obtained and then treated in the laboratory. The treated cells are then given back to the patient through an intravenous injection.
  • Physical therapy – A doctor can decide to advise the patient to involve themselves in physical activities in order to relieve symptoms like muscle spasms and rigidity.

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