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Leukodystrophy is characterized by specific symptoms, including decreased motor function, muscle rigidity, and eventual degeneration of sight and hearing. While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset.
The disease is one in a group of genetic disorders collectively known as leukodystrophies that affect the growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the central nervous system. The several forms of Pelizaeus–Merzbacher disease include classic, congenital, transitional, and adult variants. [5]
While the quality of life might be improved with treatment, the life expectancy can't be improved easily: individuals diagnosed with ADLD typically live for another 10 to 20 years after their diagnosis before their death. [28] [29]
Later onset of symptoms is associated with longer life expectancy, with older children generally surviving two to seven years after the initial diagnosis. [22] Krabbe disease occurs in about one in 100,000 births. [23] Because the disease is genetic, incidence rates vary widely from population to population. [21]
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Metachromatic leukodystrophy has an autosomal recessive pattern of inheritance. MLD has an autosomal recessive inheritance pattern. The inheritance probabilities per birth are as follows: [8] If both parents are carriers: 25% (1 in 4) of children will have the disease; 50% (2 in 4) of children will be carriers, but unaffected
Canavan disease typically results in death or development of life-threatening conditions by the age of ten, though life expectancy is variable, [14] and is highly dependent on specific circumstances. [15] On the other hand, the milder variants of the disorder seem not to have any effect on lifespan. [6]
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