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PMD - What is it?
Pelizaeus-Merzbacher Disease - How do you say that? Sort of like this, Please-Z-us Merz-bocker Disease. We call it PMD to make it a little easier.
What is it? It is a rare genetic disease that affects the myelin that covers the nerves of the central nervous system. PMD was named for two German physicians who did early research on the disease, Dr. F. Pelizaeus and Dr. L. Merzbacher.
PMD is a very rare disease in the family of leukodystrophies. Leukodystrophies are disorders that affect the body's ability to produce, or maintain, the myelin sheath that insulates the nerves of the central nervous system. These nerve fibers, called axons, carry impulses from the brain to other parts of the body. The axons are similar to an electrical wire, the myelin is like the insulation that covers them. In males with PMD there is an inborn error that does not allow this "insulation" properly form. As with an electrical wire, if the insulation is missing, or worn through, the current does not reach its proper destination. Unlike some leukodystrophies, PMD is not a de-myelinating disease, where normal myelin is destroyed, but a dys-myelinating disease, where proper myelin is never formed.
PMD is such a rare disease that most doctors will never see a patient with it, there are less than 1,500 diagnosed cases worldwide.
The annual PMD Family Support Conference was started in 1990 by Patti & George Daviau. They had three sons, all of whom were affected with PMD. Patti & George have now lost their sons but they, along with other family members, continue working hard to raise awareness about PMD and offer support to other families living with this rare disease. (To learn more about Patti & George click here.)
Pelizaeus-Merzbacher Disease - How do you say that? Sort of like this, Please-Z-us Merz-bocker Disease. We call it PMD to make it a little easier.
What is it? It is a rare genetic disease that affects the myelin that covers the nerves of the central nervous system. PMD was named for two German physicians who did early research on the disease, Dr. F. Pelizaeus and Dr. L. Merzbacher.
PMD is a very rare disease in the family of leukodystrophies. Leukodystrophies are disorders that affect the body's ability to produce, or maintain, the myelin sheath that insulates the nerves of the central nervous system. These nerve fibers, called axons, carry impulses from the brain to other parts of the body. The axons are similar to an electrical wire, the myelin is like the insulation that covers them. In males with PMD there is an inborn error that does not allow this "insulation" properly form. As with an electrical wire, if the insulation is missing, or worn through, the current does not reach its proper destination. Unlike some leukodystrophies, PMD is not a de-myelinating disease, where normal myelin is destroyed, but a dys-myelinating disease, where proper myelin is never formed.
PMD is such a rare disease that most doctors will never see a patient with it, there are less than 1,500 diagnosed cases worldwide.
The annual PMD Family Support Conference was started in 1990 by Patti & George Daviau. They had three sons, all of whom were affected with PMD. Patti & George have now lost their sons but they, along with other family members, continue working hard to raise awareness about PMD and offer support to other families living with this rare disease. (To learn more about Patti & George click here.)
