Diagnosis

Diagnosis at Mayo Clinic

Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others work together to diagnose your condition. Mayo Clinic doctors have experience diagnosing adrenoleukodystrophy (ALD), which may be difficult to diagnose because the symptoms are similar to other neurological conditions.

To diagnose your condition, your doctor will review your symptoms and your medical and family history. Your doctor will conduct a physical examination and order several tests.

  • Blood testing. These tests check for high levels of very long-chain fatty acids (VLCFA) in your blood, which are a key indicator of adrenoleukodystrophy.

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

  • MRI. Powerful magnets and radio waves create detailed images of your brain in an MRI scan, allowing doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue (white matter) of your brain. Doctors may use several types of MRI to view the most detailed images of your brain and detect early signs of leukodystrophy.
  • Vision screening. Measuring visual responses can monitor disease progression in males who have no other symptoms.
  • Skin biopsy and fibroblast cell culture. A small sample of skin may be taken to check for increased levels of VLCFA in some cases.

Treatment

Treatment at Mayo Clinic

Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others work together to determine the most appropriate treatment for people who have adrenoleukodystrophy (ALD).

Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression.

Your treatment options may include:

  • Stem cell transplant. This may be an option to slow or halt the progression of adrenoleukodystrophy in children if the disease is diagnosed and treated early. Stem cells may be taken from bone marrow through bone marrow transplant.
  • Adrenal insufficiency treatment. Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy).
  • Medications. Your doctor may prescribe medications to help relieve symptoms, including stiffness and seizures.
  • Physical therapy. Physical therapy may help relieve muscle spasms and reduce muscle rigidity. Your doctor will recommend wheelchairs and other mobility devices if needed.
  • Genetic counseling. Your treatment may include genetic counseling for you and your family. Mayo Clinic doctors trained in hereditary conditions (neurometabolic specialists) explain your diagnosis and the role of genes in your condition. Doctors strongly recommend that you and your family receive genetic testing and counseling.

Adrenoleukodystrophy care at Mayo Clinic

Dec. 12, 2014
References
  1. NINDS Adrenoleukodystrophy information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm. Accessed Oct. 11, 2014.
  2. X-linked adrenoleukodystrophy. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy. Accessed Oct. 11, 2014.
  3. Percy AK, et al. Adrenoleukodystrophy. http://www.uptodate.com/home. Accessed Oct. 11, 2014.
  4. Pagon RA, et al. GeneReviews. Seattle, Wash.: University of Washington, Seattle; 2012. http://www.ncbi.nlm.nih.gov/books/NBK1315/. Accessed Oct. 11, 2014.