What is PMD?

Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath – the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation.

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One thought on “What is PMD?

  1. Alex

    Hi, I just read you r recent article that you posted about poor care for your son from negligent nurses. I jwanted to tell you that I felt very frustrated for you . Can they not assign one nurse that essentially works full time days and one full time nights? Wouldn’t that be better for your son too interms of building a relationship! What a frustrating situation to be in. Please let me know if I can help? Signing a petition? I don’t know anything.
    Stay strong,
    Alex

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