Print DiagnosisTo diagnose ALD, your doctor will review your symptoms and your medical and family history. Your doctor will conduct a physical examination and order several tests, including: Blood testing. These tests check for high levels of very long-chain fatty acids (VLCFAs) 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. This allows 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. Care at Mayo Clinic Our caring team of Mayo Clinic experts can help you with your adrenoleukodystrophy -related health concerns Start Here Treatment 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. Treatment options may include: Stem cell transplant. This may be an option to slow or halt the progression of adrenoleukodystrophy in children if ALD 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 may recommend wheelchairs and other mobility devices if needed. In a recent clinical trial, boys with early-stage cerebral ALD were treated with gene therapy as an alternative to stem cell transplantation. Early results from gene therapy are promising. Disease progression stabilized in 88 percent of boys who participated in the trial. Additional research is necessary to assess long-term results and safety of gene therapy for cerebral ALD. By Mayo Clinic Staff Adrenoleukodystrophy care at Mayo Clinic Request an appointment Symptoms & causesDoctors & departments Feb. 07, 2020 Print Living with adrenoleukodystrophy? Connect with others like you for support and answers to your questions in the Transplants support group on Mayo Clinic Connect, a patient community. Transplants Discussions Anyone waiting for liver transplant and diagnosed with liver cancer? 27 Replies Fri, Nov 22, 2024 chevron-right Liver transplant - Let's support each other 1617 Replies Wed, Nov 13, 2024 chevron-right Transplant anti-rejection medications. What's your advice? 362 Replies Sun, Nov 10, 2024 chevron-right See more discussions Show references Adrenoleukodystrophy information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Adrenoleukodystrophy-Information-Page. Accessed Sept. 26, 2017. National Library of Medicine. X-linked adrenoleukodystrophy. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy. Accessed Sept. 26, 2017. Kliegman RM, et al. Adrenocortical insufficiency. In: Nelson Textbook of Pediatrics. 20th ed. Philadelphia, Pa.: Elsevier; 2016. https://www.clinicalkey.com. Accessed Sept. 26, 2017. Tran C, et al. Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study. European Journal of Paediatric Neurology. 2017;21:600. Wanders RJ, et al. Adrenoleukodystrophy. https://www.uptodate.com/contents/search. Accessed Sept. 27, 2017. Riggin EA. Allscripts EPSi. Mayo Clinic, Rochester, Minn. July 20, 2017. Eichler F, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. The New England Journal of Medicine. In press. Accessed Oct. 22, 2017. Related Products & Services A Book: Mayo Clinic Family Health Book Newsletter: Mayo Clinic Health Letter — Digital Edition Show more products and services from Mayo Clinic AdrenoleukodystrophySymptoms&causesDiagnosis&treatmentDoctors&departmentsCare atMayoClinic Advertisement Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. 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