Farber's Disease
Information Page |
NINDS is part of the
National Institutes of
Health
Table of Contents (click to jump to sections)
What is Farber's Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Related NINDS Publications and Information
What is Farber's Disease?
Farber’s disease 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. 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 arthritis, swollen lymph
nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), chronic shortening
of muscles or tendons around joints, and vomiting. Affected persons may require the insertion of a breathing tube. In severe
cases, the liver and spleen are enlarged. 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.
Is there any treatment?
What is the prognosis?
What research is being done? 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: www.ncbi.nlm.nih.gov/PubMed. The NLM also offers extensive health information from NIH and other trusted sources.
Go to: www.medlineplus.gov.
Select this link to view a list of studies currently seeking patients.
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Last updated August 13, 2008