DAVID MIROTZNIK Biology 5 th hr January 25

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. • 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

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.

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

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.

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

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.

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

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

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

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

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.

Works Cited • www. ghr. nlm. nih. gov/condition/Krabbedisease • www. mayoclinic. com • www. ehow. com/about_5569537_krabbedisease-named. html • www. krabbes. com/haleys_hope/general_i nformation. htm