Adrenoleukodystrophy (ALD) is a serious genetic disorder characterized by the progressive degeneration of nerve cells, which carry information to and from the brain. ALD can also affect the adrenal glands and cause them to make fewer hormones than they should. If only the adrenal glands are affected, the condition is called Addison’s disease.
Symptoms of the most severe type of ALD, childhood cerebral adrenoleukodystrophy (CALD), generally begin when patients are between the ages of 4 and 10, and progress rapidly. The adult-onset form of ALD, adrenomyeloneuropathy (AMN), is generally milder, but can still have devastating consequences for patients and their caregivers.
Treatments for ALD
There are only a few therapies available for ALD, although new experimental treatments are being developed. The current standard of care for CALD involves a transplant of stem cells either from a donor or the patient himself. However, the procedure is dangerous, and not all patients are eligible to receive the treatment.
For their adrenal symptoms, many patients take corticosteroids to replace the hormones that their glands are not producing.
Patients should work with a physiotherapist or occupational therapist to develop a safe exercise program to ensure they maintain mobility for as long as possible, without causing damage that might worsen their condition. Occupational therapists can also work with patients to find easier ways to perform daily tasks.
Some patients may require adaptive devices, such as braces, wheelchairs, or automatic chairs. There are also adaptive devices to make daily tasks, such as eating and dressing, easier for patients.
ALD affects mostly males because the disease-causing mutation is located on the X chromosome, and males have only one X chromosome. If they inherit an X chromosome carrying the faulty gene from their mother, unlike women, they will not have another X chromosome that can compensate for the fault, and so will develop the disease.
Men who are diagnosed as adults may already have had children by the time they are diagnosed. Their daughters will be carriers of the disease-causing gene, but their sons will not inherit the disease from them.
Genetic counselors can help in the process of determining whether children or other family members may also have the disease, so treatment can be started for them as early as possible.
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