We know that information for patients, especially the ones with rare disease, are fundamental. We have created a dedicate website within our Route Map project to cover all practical issues from medications to the benefits you can claim if you or one of your beloved is diagnosed with ALD or AMN.

If you would like to submit your own practical advice please use the form on the website.  All submissions are monitored before being posted.

All forms of ALD will most likely also have adrenal failure, which must be treated with replacement steroids and monitored carefully. However this is not always the case, and conversely some carriers of the adrenoleukodystrophy gene will have adrenal failure but no neurological problems.

Female carriers (heterozygotes) may experience mild symptoms in later years including progressive stiffness, weakness or paralysis of the lower limbs, ataxia, excessive muscle tone, mild peripheral neuropathy (possible numbness, weakness, burning pain (especially at night), and loss of reflexes) and urinary problems. Some females may go on to suffer more serious symptoms similar to adrenomyeloneuropathy.

Treatment for those with advanced adrenoleukodystrophy and adrenomyeloneuropathy is largely based on management of symptoms. At present there is no cure.

Detection of the disorder is extremely difficult unless the patient prior presents with adrenal failure. Any child with adrenal failure should be tested for the adrenoleukodystrophy gene immediately. If the gene is present then all family members must be tested. There is a 50% chance of passing on the gene and although women do not have such serious symptoms, the chance of them again passing the gene on to their own children is not a risk that should be taken lightly. Any females carrying the gene should be offered pre-implantation genetic diagnosis when starting a family of their own should they wish it. Although males cannot pass the gene to their sons, they can pass it to their daughters and this fact should not be ignored when doing genetic testing.