Complete Information on Farber's Disease

Farber's disease is a rare inherited metabolic disorder. Farber's disease is affected liver, heart, and kidneys. Farber's disease is excess amounts of lipids build up to harmful levels in the joints, tissues, and central nervous system. Children who have the classic form of Farber disease develop neurological shnapps within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Symptoms are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing.

Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthemas which thicken around joints as the disease progresses. This disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females. Most children with the classic form of Farber’s disease die by age 2, usually from lung disease.

Farber's disease is inherited as an autosomal recessive genetic trait. Corticosteroids can help relieve pain. Nodes can be treated with bone marrow transplants, in certain instances, or may be surgically reduced or removed. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on patients with little or no lung or nervous system complications. Older patients may have granulomas surgically reduced or removed. Older patients may have granulomas surgically reduced or removed.

By: Juliet

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