Metachromatic Leukodystrophy

Summarized by Plex Health
Last Updated: 02 May 2022
late infantile metachromatic leukodystrophy: clinical manifestations of five taiwanese patients and genetic features in asia. "late infantile metachromatic leukodystrophy: clinical manifestations of five taiwanese patients and genetic features in asia.", by Liaw HR, Lee HF, Chi CS, Tsai CR. Fig1: Cranial MRIs of our patients. a-c represents patient 1, d-f patient 2, g-i patient 3, j-l patient 4, and m-o patient 5. (a, d, g, j, m) Hypointense radially oriented stripes and dots seen...

Metachromatic leukodystrophy is an acquired condition characterized by the buildup of fats called sulfatides in cells, especially cells of the nerves. Individuals with one mutated duplicate of the genetics are described as service providers; carriers usually do not have any signs or symptoms of the condition. When 2 providers of an autosomal recessive condition have children, each child has a 25% chance to have the condition, a 50% chance to be a provider like each of the parents, and a 25% chance to not have the problem and not be a carrier. Most children with the childish kind die by age 5. This kind may perhaps proceed over 20 to 30 years, although many people with the adult type die within 6 to 14 years complying with the onset of symptoms. Nerve cells covered by myelin make up a tissue called white matter. In people with metachromatic leukodystrophy, white matter damage causes progressive damage of intellectual functions and motor skills, such as the ability to walk. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most typically including the gallbladder. The adult type of metachromatic leukodystrophy impacts about 15 to 20 percent of individuals with the disorder. The brain and nerve system gradually lose function since the substance that covers and safeguards the nerve cells is damaged. The childish type is one of the most common and advances more swiftly than the other forms. Relying on the kind and age of beginning, early identification and therapy may assist manage some signs and symptoms and hold-up development of the disorder. Talk with your doctor if you observe any signs detailed above or if you have concerns about your own signs or symptoms.

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