Infantile Refsum Disease Health Article

Prognosis

For patients with IRD, some success has been achieved with multidisciplinary early intervention, including physical and occupational therapy, hearing aids, alternative communication, nutrition, and support for the parents. Although most patients continue to function in the profoundly or severely retarded range, some make significant gains in self-help skills, and a small percentage may reach stable condition in their teens. Despite these few successes, the prognosis for individuals with IRD is poor; death generally occurs in the second decade of life.

BOOKS

"Peroxisomal Disorders." Nelson Textbook of Pediatrics, edited by R. E. Behrman. Philadelphia: W. B. Saunders, 2000, pp. 318-384.

PERIODICALS

Bader, P. I., et al. "Infantile refsum disease in four Amish sibs." American Journal of Medical Genetics 90 (January 2000): 110-114.

Naidu, S., H. Moser. "Infantile refsum disease." American Journal of Neuroradiology. 12 (November 1991):1161-1163

Torvik, A., et al. "Infantile refsum's disease: A generalized peroxisomal disorder." Journal of Neurological Science 85 (May 1988): 39-53.

ORGANIZATIONS

Infantile refsum disease support and information. 6004 NE 108th Avenue, Vancouver, WA, 98662. (360) 891-5878. <http://home.pacifier.com/~mstephe/>.

WEBSITES

Infantile Refsum Disease Webring. <http://www.angelfire.com/nc/homefireplace/IRDring.html>.

National Center for Biotechnology Information. OMIM—Online Mendelian Inheritance in Man. <http://www3.ncbi.nlm.nih.gov/htbinpost/Omim>.

NINDS Infantile refsum Disease Information Page. <http://www.ninds.nih.gov/health_and_medical/disorders/refsum_infantile_doc.htm>.

Oren Traub, MD, PhD