ADRENOLEUCODISTROFIA ALD PDF

What is adrenoleukodystrophy? Adrenoleukodystrophy ALD refers to several different inherited conditions that affect the nervous system and adrenal glands. The gene that causes ALD was identified in According to the Oncofertility Consortium , ALD occurs in about 1 in 20, to 50, people and mainly affects men.

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What is adrenoleukodystrophy? Adrenoleukodystrophy ALD refers to several different inherited conditions that affect the nervous system and adrenal glands. The gene that causes ALD was identified in According to the Oncofertility Consortium , ALD occurs in about 1 in 20, to 50, people and mainly affects men. Women with the gene tend to be asymptomatic or mildly symptomatic, meaning there are no symptoms or very few symptoms.

The symptoms, treatments, and prognosis of ALD vary depending on which type is present. ALD is not curable, but doctors can sometimes slow its progression. It progresses very rapidly and causes severe disability and even death. Adrenomyelopathy primarily affects adult men. It also progresses slowly by comparison. Men are typically affected by ALD at an earlier age than women and usually have more severe symptoms.

ALD affects males more than females because it is inherited in an X-linked pattern. This means that the responsible gene mutation is on the X chromosome. Men only have one X chromosome, while women have two. Because women have two X chromosomes, they can have one normal gene and one copy with the gene mutation.

Women who have only one copy of the mutation have much milder symptoms than men. Their normal copy of the gene makes enough ALDP to help mask their symptoms. Most women with ALD have adrenomyelopathy. Symptoms of childhood cerebral ALD include: muscle spasms.

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