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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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Farber's Disease

Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.  The liver, heart, and kidneys may also be affected.  Disease onset is typically seen in early infancy but may occur later in life.  Symptoms of the classic form  may have moderately impaired mental ability and difficulty with swallowing.  Other symptoms may include chronic shortening of muscles or tendons around joints,arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting.  Affected persons may require the insertion of a breathing tube.  In severe cases, the liver and spleen are enlarged.  Farber's disease is caused by a deficiency of the enzyme ceramidase. The 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.


Currently there is no specific treatment for Farber’s disease.  Corticosteroids may help relieve pain.  Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications, or may be surgically removed in older individuals.


Most children with the classic form of Farber’s disease die by age 2, usually from lung disease.  Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years.


The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), conducts research about lipid storage diseases such as Farber’s disease and also supports additional research through grants to major medical institutions across the country.  NINDS scientists are studying the mechanisms by which the lipids accumulating in these storage diseases can harm the body.  Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) in the hopes to developing novel therapeutics for these disorders.The National Library of Medicine (NLM), a component of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed.  Go to:  The NLM also offers extensive health information from NIH and other trusted sources.  Go to:

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