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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.
Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic origin which is characterized by gradual demyelination of the central nervous system which results in various impairments, including ataxia, mild cognitive disability and autonomic dysfunction.
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.
Childhood ataxia with central nervous system hypomyelinization, Vanishing white matter leukodystrophy, Cree leukoencephalopathy, Vanishing white matter leukodystrophy with ovarian failure, included, Myelinopathia centralis diffusa: This condition is inherited in an autosomal recessive manner
Krabbe disease (KD) (also known as globoid cell leukodystrophy [3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.
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Living in Toronto, Canada, getting appointments for specialists is always a waiting game. Canada has a publicly funded healthcare system, which has resulted in limited specialty care resources and ...