Genetics of ALD: Should You Be Worried?

Genetics of ALD: Should You Be Worried?

Adrenoleukodystrophy (ALD) is an X-linked genetic disease characterized by neurological dysfunction and damage to the adrenal glands. Understanding the genetics of ALD and how the disease is inherited can go a long way in the proper management of symptoms, family planning, and developing future therapeutic approaches.

I’m a female carrier of ALD; what are the chances of my children being affected by the disease?

Females have two X chromosomes. In female carriers of ALD, one of the X chromosomes still contains the normal copy of the ABCD1 gene that somewhat compensates for the mutated copy.

If you are a female carrier of ALD, the following probabilities can be expected for each pregnancy:

  • A 50% chance that a male child will be affected.
  • A 50% chance that a female child will also be a carrier.

I’m a male diagnosed with ALD; what are the chances of my children being affected by the disease?

Males have one X and one Y chromosome. Therefore, a mutation in the ABCD1 gene on the X chromosome is enough to cause ALD symptoms in males.

If you are a male diagnosed with ALD, the following probabilities can be expected for each birth:

  • None of the male children are affected.
  • All female children become carriers and may show mild symptoms.

Getting an appointment with a genetic counselor

Whether you are a parent of a newborn diagnosed with ALD or someone with a family history of ALD planning a pregnancy, genetic counseling by trained genetic counselors can help in offering both therapeutic and moral support. Most hospitals offer in-house genetic counselors or they will be able to direct you to one elsewhere. You can also contact the following organizations for more information on genetic counseling and the availability of trained counselors:

 

Last updated: Sept. 4, 2019

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Adrenoleukodystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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