Metachromatic leukodystrophy is a rare hereditary (genetic) disorder that results in an accumulation of lipids, or fats, in cells, particularly in the brain, spinal cord, and peripheral nerves. This buildup is caused by a deficiency of an enzyme known as sulfatide hydrolyzing enzyme. The damage to myelin, the substance that covers and protects nerve cells, causes the brain and nervous system to progressively lose their functional capacity.
There are three types of metachromatic leukodystrophy, each affecting a distinct age range: late infantile, juvenile, and adult. Signs and symptoms are subject to change. The infantile form is the most common and progresses more swiftly than the other forms.
The current treatment for metachromatic leukodystrophy is unknown.
Late infancy: Usually affecting children under two, this is the most common kind of metachromatic leukodystrophy. Rapid deterioration of speech and motor function occurs gradually. Often, children of this kind do not survive to adulthood.
Speech, physical, and occupational therapy: Physical therapy may be helpful to preserve range of motion and improve flexibility in the muscles and joints. Occupational therapy and speech therapy can help people continue to function.
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Founder and Director, The Comfort Ability® Program, Department of Anesthesia, Critical Care and Pain Medicine, at Boston Children's Hospital
2moCongrats!!! Would love to see a copy of this poster if you're willing to share!