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What is the prevalence of Leukodystrophy?

How many people does Leukodystrophy affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Leukodystrophy

Leukodystrophy is a rare group of genetic disorders that affect the white matter of the brain. While the prevalence varies depending on the specific type of leukodystrophy, it is estimated to affect approximately 1 in 7,000 to 1 in 100,000 individuals worldwide. These disorders primarily manifest in childhood and can lead to progressive neurological deterioration. Early diagnosis and intervention are crucial for managing symptoms and providing appropriate care. Research and awareness efforts are ongoing to better understand and support individuals and families affected by leukodystrophy.



Leukodystrophy is a rare group of genetic disorders that affect the white matter of the brain, impairing its normal function. While the prevalence of leukodystrophy varies depending on the specific type, it is generally considered to be a rare condition.


Due to the rarity of leukodystrophy, it is challenging to determine an exact prevalence rate. However, it is estimated that the overall prevalence of leukodystrophy is around 1 in 7,000 to 1 in 10,000 individuals worldwide. This means that it affects a relatively small number of people compared to more common conditions.


Leukodystrophy can affect individuals of any age, from infants to adults. Some types of leukodystrophy are more common in certain populations or ethnic groups, while others have a more equal distribution across different populations.


It is important to note that while leukodystrophy is rare, it can have significant impacts on individuals and their families. Early diagnosis, appropriate medical care, and ongoing support are crucial in managing the condition and improving the quality of life for those affected.


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2 answers
The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory. A total of 37 mutant genes have been analysed. The G→A change destroying the splice donor site of exon 2 is generally associated with more severe disease and was found in 43.2% of mutant ASA genes. The C→T transition causing a proline to leucine substitution at position 426 in exon 8 (P426→L) is associated with later onset disease, and was found in 16.2% of mutant genes. The A→G transition leading to loss of a polyadenylation signal associated with ASA pseudodeficiency was present at a frequency of 7.5% in the patients and heterozygotes studied.

Posted Aug 7, 2017 by Todd 2340

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http://codziennosckrabika.blogspot.com/
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I wouldn't mind being an ambassador, but I don't have this crappy disease, I am only a carrier. My son had the disease and he died in 1977. Also I don't think I can afford a DNA test... isn't there another way to become an ambassador?

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