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Leukodystrophy

Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. more...

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Types

Specific leukodystrophies include (ICD-10 codes are provided where available):

  • (E71.3) adrenoleukodystrophy
  • (E75.2) metachromatic leukodystrophy
  • (E75.2) Krabbe disease
  • (E75.2) Pelizaeus-Merzbacher disease
  • Canavan disease
  • childhood ataxia with central hypomyelination (CACH or vanishing white matter disease)
  • Alexander disease
  • (G60.1) Refsum disease
  • cerebrotendineous xanthomatosis

Symptoms

The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.

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Baca teams with NFL Great Kelly to battle child disease with special car at U.S. Nationals
From National Dragster, 8/29/03

David Baca, part-owner and driver of the American Racing Top Fuel dragster, has announced a special program with the Hunter's Hope Foundation that will unfold at the Mac Tools U.S. Nationals. Former Buffalo Bills quarterback and NFL Hall of Fame member Jim Kelly and his wife, Jill, established the Hunter's Hope Foundation (www.huntershope.org) in September 1997 after their infant son was diagnosed with Krabbe's disease, also known as globoid-cell leukodystrophy.

"Having been fortunate to know a number of sports figures, you never know what will come as a result of those acquaintances," said Baca. "Such is the case with Jim Kelly. We had an opportunity through our relationship with Jim's group to forge a program that will allow us to expand the sport of NHRA POWERade Drag Racing beyond the mainstream enthusiasts."

"Indianapolis Raceway Park is a legendary track and a great place to promote Hunter's Hope," Kelly said. "By teaming with Henkelman & Baca Motorsports for this event, we hope to increase awareness about Krabbe's disease as well as other leukodystrophies and to promote the need for continued research to identify new treatments and, ultimately, a cure."

"Children are the future," Baca said. "I love children. No matter how busy I am, I can always find time for a child. I hate to see any young person suffer. There are some things that are beyond one's control, but each one of us should make an effort to make their quality of life comfortable and, where possible, to try to make it better."

A number of support programs will be in place throughout the event to ensure that Hunter's Hope Foundation receives direct benefit from its association with Henkelman & Baca Motorsports. Baca's dragster will carry a special design and color scheme featuring the Hunter's Hope Foundation logos, and the Coca-Cola Company, POWERade, and NHRA will play integral roles in the program's success.

Copyright National Hot Rod Association Aug 29, 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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