Metachromatic leukodystrophy

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Metachromatic Leukodystrophy

Metachromatic leukodystrophy (pronounced: meh-tuh-kroh-ma-tik loo-ko-dis-troh-fee) is a rare, genetic, neurodegenerative disorder.

Etymology

The term "metachromatic" is derived from the Greek words "meta" meaning "change" and "chroma" meaning "color". This refers to the characteristic that the granules in the white matter of the brain change color when stained and viewed under a microscope. "Leukodystrophy" comes from the Greek words "leuko" meaning "white", and "dystrophy" meaning "wasting away" or "degeneration", referring to the progressive degeneration of the white matter in the brain.

Definition

Metachromatic leukodystrophy is characterized by the accumulation of certain fats called sulfatides in the cells, specifically in the white matter of the brain and in the peripheral nerves. This accumulation results in progressive neurological symptoms including motor skill deterioration, muscle wasting, and eventual paralysis.

Causes

Metachromatic leukodystrophy is caused by mutations in the ARSA gene. This gene provides instructions for producing the enzyme arylsulfatase A, which is necessary for breaking down sulfatides. When the ARSA gene is mutated, the enzyme's activity is reduced or absent, leading to sulfatide accumulation.

Symptoms

Symptoms of metachromatic leukodystrophy can vary widely among affected individuals and by the form of the disease. Common symptoms include muscle weakness and wasting, decreased coordination, and progressive loss of vision.

Diagnosis

Diagnosis of metachromatic leukodystrophy is typically made through a combination of clinical examination, MRI scans, and genetic testing to identify mutations in the ARSA gene.

Treatment

There is currently no cure for metachromatic leukodystrophy. Treatment is supportive and aimed at managing symptoms. This may include physical therapy, occupational therapy, and other supportive treatments.

Related Terms

External links

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