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Definition:
Gaucher Disease Type II is more severe but less common than Gaucher Disease Type I. Fewer than one in 100,000 babies have Gaucher Disease Type II. Similar to Type I, it results from the deficiency of glucocerebrosidase, the enzyme necessary for the breakdown of a particular fatty substance, glucocerebroside. Unlike Gaucher Disease Type I, Type II affects individuals of all races and ethnicities equally. Symptoms:
Symptoms usually appear in an affected infant a few months following birth. There is a classic triad of neurologic symptoms that include crossed eyes (strabismus), a clenched jaw (trismus), and arching back of the neck (retrocollis). Most children also have enlargement of the liver and spleen. Inheritance Pattern:
Gaucher Disease Type II is an autosomal recessive inheritance pattern. Life expectancy:
Life expectancy for Gaucher Disease Type II is two years of age or younger.
Diagnosis and Testing:
A blood test is performed to confirm a diagnosis of Gaucher Disease Type II. This blood test measures the amount of the enzyme glucocerebrosidase and compares it to normal enzyme activity levels. If the disorder is present, low levels of enzyme will be present as well. Additional tests can also be performed to determine the severity of the disorder. X-rays, MRIs, and CT scans can be performed to detect skeletal abnormalities. Further blood tests can be performed to measure low platelet counts and liver function. MRIs and CT scans can also measure the spleen and liver, and nerve tests can be performed to survey how the nerves and brain have been affected by the disease. Anyone with a family member who has Gaucher Disease, as well as anyone who displays symptoms of Gaucher Disease, would be a candidate for such tests. Treatment:
Treatment for Gaucher Disease Type II includes pain management. Various therapies can reduce the pain associated with this disorder. Blood transfusions can help treat the anemia that may occur in some affected individuals. Psychological counseling is encouraged to help families manage some of the emotional toll this disorder imparts. Enzyme replacement therapy does not prevent the nervous system damage that occurs in Gaucher Disease Type II. Patient Groups:
Children's Gaucher Disease Research Fund
P.O. Box 2123
Granite Bay, CA 95746
www.childrensgaucher.org
tel: (916) 797-3700
fax: (916) 797-3707
Gregory Macres, Founder, Chairman
research@childrensgaucher.org National Gaucher Foundation
2227 Idlewood Road, Suite 12
Tucker, GA 30084
www.gaucherdisease.org
tel: (800) 504-3189
fax: (770) 934-2911
Rhonda P. Buyers, Executive Director
rhonda@gaucherdisease.org National Tay-Sachs & Allied Diseases Association
2001 Beacon Street, Suite 204
Boston, MA 02135
www.ntsad.org
tel: (800) 906-8723
fax: (617) 277-0134
Sue R. Kahn, Executive Director
info@ntsad.org
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