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DAVID MIROTZNIK Biology 5 th hr. January 25, 2011

KRABBE DISEASE. DAVID MIROTZNIK Biology 5 th hr. January 25, 2011. ABOUT THE DISEASE. Krabbe disease is a degenerative disorder that affects the nervous system. The disease causes a deficiency of an enzyme.

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DAVID MIROTZNIK Biology 5 th hr. January 25, 2011

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  1. KRABBE DISEASE DAVID MIROTZNIK Biology 5th hr. January 25, 2011

  2. ABOUT THE DISEASE • Krabbe disease is a degenerative disorder that affects the nervous system. • The disease causes a deficiency of an enzyme. • Without this enzyme, myelin does not properly cover the nerves causing physical, mental, and emotional problems. • Krabbe disease is also know as • Globoid cell leukodystrophy. • Diffuse globoid body schlerosis • GALC deficiency • GCL

  3. Who is most likely to get Krabbe Disease? • Krabbe disease usually develops in infants. • Late onset Krabbe disease is less common but may occur in childhood or adolescence. • Krabbe disease occurs more often in people from Israel and from Sweden than in the population at large.

  4. SYMPTOMS • Symptoms start before the age of 1 • Some signs of symptoms include: • irritability, • muscle weakness, • feeding difficulties, • stiff posture, • slow mental/physical development.

  5. Inheritance Pattern • Inheritance Pattern • Krabbe disease is an autosomal recessive disorder, which means you have to inherit the abnormal gene from both parents in order to get it.

  6. What Chromosome is Involved? • Krabbe disease is caused by mutations in gene GALC, which is located on chromosome 14

  7. How Common is Krabbe Disease? • In the United States, 1 out of 100,000 people have Krabbe disease. • About 1 out of 150 people carry the gene for Krabbe Disease.

  8. Is Krabbe Disease Deadly? • Is it fatal? • Yes, it is typically fatal when it occurs in children who are 2 years or younger • Does it shorten the lifespan? • Yes, when it develops in children and adolescents they usually only live for a few years

  9. Is there a test for Krabbe Disease? • Several tests can be used to detect Krabbe Disease: • Image scans of the brain and head • Nerve conduction studies • Eye examinations • Genetic testing • When can you get tested? • A blood test can be done to see if you carry the gene for Krabbe Disease • Prenatal tests are possible to determine if Krabbe Disease is present before birth • Infants may also be tested

  10. Is there a treatment for Krabbe Disease? • There is no cure for Krabbe Disease. • Some treatments used to try to reduce the severity of the disorder include: • Bone marrow transplants • Cord blood transfusions

  11. Are there any support groups for Krabbe Disease? • There are several support groups for Krabbe Disease: • The United Leukodystrophy Foundation • Family Village • Hunter’s Hope • National Organization for Rare Disorders

  12. Did you know… • Krabbe disease was discovered in the early 1900’s by a doctor in Denmark named Knud Haraldson Krabbe. • Ironically, Dr. Krabbe died in 1966 from Parkinsons Disease, a neurological disorder that develops later in life.

  13. Works Cited • www.ghr.nlm.nih.gov/condition/Krabbe-disease • www.mayoclinic.com • www.ehow.com/about_5569537_krabbe-disease-named.html • www.krabbes.com/haleys_hope/general_information.htm

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