Adrenoleukodystrophy: What Are the First Signs?

Adrenoleukodystrophy: What Are the First Signs?
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Some states in the U.S. test newborns for adrenoleukodystrophy (ALD). This often is the first indication to parents that their child may have ALD. However, there are different types of ALD depending on which parts of the body the disease affects. These different types have very different ages of onset.

If ALD affects the brain doctors call it cerebral ALD. They further divide cerebral ALD into subtypes based on the age of patients when symptoms appear: childhood, adolescence, and adult-onset cerebral ALD.

Sometimes the disease affects the spinal cord and adrenal glands; doctors call that adrenomyeloneuropathy (AMN).

When the disease affects only the adrenal glands, it is called Addison’s disease.

How old are patients when the first signs appear?

The first signs of cerebral ALD may appear as early as age 2 (childhood-onset) although some patients don’t show symptoms until they are adults or middle-age. Most patients develop normally until initial symptoms appear.

The first signs of AMN usually emerge when patients are in their 20s and include stiffness and clumsiness, weight loss, and nausea. Some patients also have muscle weakness.

The first symptoms of Addison’s disease can appear at any age but usually occur in people ages, 30 to 50. They include fatigue, weight loss, darkening of the skin, low blood pressure and sugar, and gastrointestinal symptoms such as nausea, vomiting, and diarrhea.

What happens as the disease progresses?

In children, cerebral ALD progresses rapidly. As the disease advances, patients develop dementia, poor coordination, seizures, hyperactivity, problems with speech, and headaches. Among those whose symptoms first appear in adolescence, disease progression usually is slower.

Adult-onset cerebral ALD is rare, but tends to progress rapidly once neurological symptoms appear. These symptoms can be similar to schizophrenia with dementia.

As AMN progresses, patients develop adrenal impairment when the adrenal glands don’t make enough of certain hormones. Within five to 15 years of diagnosis, patients may need a cane or a wheelchair.

The symptoms of Addison’s disease usually develop slowly over several months and patients usually ignore them until a stressor such as illness or injury makes them worse.

 

Last updated: May 20, 2020

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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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