Description

Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truth-fee) is a type of hereditary (genetic) condition that damages the membrane (myelin sheath) that insulates the nerve cells in the brain.

In adrenoleukodystrophy (ALD), your body cannot break down the very long-chain fatty acids (VLCFAs), causing saturated VLCFA s to build up in the brain, nervous system and the adrenal glands.

The most common type of ALD is an X-linked ALD , which is caused by a genetic defect on the x-chromosome X-linked ALD affects males more severely than females, which carry the disease.

Forms of X-linked ALD include:

  • Childhood-onsetALD. This form of X-linked ALD generally occurs between the ages of 4 and 10. The white matter of the brain is progressively damaged (leukodystrophy), and the symptoms worsen with time. If not diagnosed in time, childhood-onset ALD can lead to death within five to 10 years.
  • Addison's disease. Production of hormones from the glands (adrenal glands) often do not produce sufficient amount of steroids (adrenal insufficiency) in people who have ALD , causing a form of X-linked ALD is known as Addison's disease.
  • Adrenomyeloneuropathy. This adult-onset X-linked ALD is a less severe form and slowly progressive causes symptoms such as stiffness of gait and bladder and bowel dysfunction. Women who are carriers of ALD can develop a mild form of adrenomyeloneuropathy.

Diagnosis

To diagnose ALD , your doctor will review your symptoms and your medical and family history. Your doctor will perform a physical exam and order several tests, including:

  • An analysis of blood.These tests check for high levels of very-long-chain fatty acids (VLCFAs) in your blood, which are a key indicator of the adrenoleukodystrophy. Doctors use blood samples for genetic testing to identify defects or mutations that causeALD. Doctors also use blood tests to assess how well your adrenal glands work.
  • The magnetic resonance imaging. Powerful magnets and radio waves to create detailed images of your brain on an mri. This allows doctors to detect abnormalities in the brain that may indicate the adrenoleukodystrophy, including damage to the nervous tissue (white matter) of the brain. Doctors can use various types of MRI to see more detailed pictures of the brain and detect the first signs of leukodystrophy.
  • Examination of the vision. The measurement of the visual response can monitor the progression of the disease in men who do not have other symptoms.
  • Skin biopsy and fibroblast cell culture. A small skin sample may be taken to verify the increase of the levels of VLCFA in some cases.

An analysis of blood. These tests check for high levels of very-long-chain fatty acids (VLCFAs) in your blood, which are a key indicator of the adrenoleukodystrophy.

Doctors use blood samples for genetic testing to identify defects or mutations that cause AML . Doctors also use blood tests to assess how well your adrenal glands work.

Treatment

Adrenoleukodystrophy has no cure. However, the transplantation of stem cells can stop the progression of ALD if it is done when the neurological symptoms appear for the first time. The doctors focus on the relief of symptoms and slow the progression of the disease.

Treatment options may include:

  • The transplantation of stem cells. This may be an option to slow or halt the progression of adrenoleukodystrophy in children if AML is diagnosed and treated in time. Stem cells can be taken from the bone marrow through a bone marrow transplant .
  • Adrenal insufficiency treatment. Many people who have ALD develop adrenal insufficiency and the need to regulate the adrenal gland tests. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy).
  • Drugs. Your doctor may prescribe medications to help relieve the symptoms, such as stiffness and convulsions.
  • The physical therapy. Physical therapy can help to relieve muscle spasms and reduce muscle stiffness. Your doctor may recommend wheelchairs and other mobility assistive devices, if needed.

In a recent clinical trial, children in the early stages of cerebral ALD were treated with the gene therapy as an alternative to stem cell transplantation. The first results of gene therapy are promising. The progression of the disease was stabilized in the 88 percent of the children who participated in the trial. Further research is required to evaluate the long-term outcomes and safety of gene therapy for ALD .

Symptoms and treatment of Adrenoleukodystrophy