(London, UK, Monday, September 20, 2021) – This month, as advocates focus on bringing attention to all leukodystrophies, they are also working to raise awareness of one leukodystrophy in particular – Metachromatic Leukodystrophy or MLD.
MLD is a very rare, fatal genetic disorder, and the incidence is estimated to be 1 in 100,000 births in the United States or approximately 30 to 40 births per year MLD is caused by a gene mutation that results in the accumulation of fats called sulfatides in the brain and other areas of the body. In its most severe and common form, this rapidly progressing neurodegenerative disease causes young children to lose the ability to walk, talk and interact with the world around them. Sadly, 50% of these children with the most severe form of the disease will die within 5 years of disease onset.
Improved awareness and education around leukodystrophies will increase parental awareness of newborn screenings for leukodystrophies. Newborn screening and early diagnostic measures are important to ensure that leukodystrophy families have an opportunity for timely diagnosis and guidance from a healthcare professional.
Interviews are provided by Orchard Therapeutics.