About PMD
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Pelizaeus Merzbacher disease, known as PMD for short, is a rare X- linked genetic disease that is a progressive and degenerative central nervous system disorder. This means that motor functions, intellectual abilities, and coordination are compromised and, overtime, progress downhill. Named after Dr. Pelizaeus and Dr. Merzbacher who both made early discoveries in observing individuals with the disease. Later, they concluded that the diseases is passed on through females and results in males inheriting the disease. PMD affects approximately 1 in 100,000 live births throughout the world, and is most common to occur in infancy and can be evident during the first few weeks of a child's life.
PMD is included in the group of gene-linked disorders called the leukodystrophies, which ultimately has a negative affect on the growth of the fat covering the nerve fibers in the brain, the myelin sheath. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). The development and the magnitude of the disease ranges depending on the individual and the type of PLP1 mutation they possess. |
To learn more about PMD and Jacob Trossman, click the button below to be redirected to the CURE PMD website.
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