$Unique_ID{BRK04212} $Pretitle{} $Title{Seitelberger Disease} $Subject{Seitelberger Disease Infantile Neuroaxonal Dystrophy } $Volume{} $Log{} Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 374: Seitelberger Disease ** IMPORTANT ** It is possible the main title of the article (Seitelberger Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Infantile Neuroaxonal Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Seitelberger Disease is an inherited central nervous system disorder usually beginning before the age of two years. Progressive muscular and coordination difficulties, speech problems, vision deficits and impaired brain function may occur with this disorder. Symptoms Children with Seitelberger Disease may experience difficulty in walking and/or speaking. A decreased sensitivity to pain may develop in the legs and trunk. Coordination may become impaired, decreased muscle tone, "floppiness", muscle spasms (spasticity) and/or weakening of reflexes may also occur. In later stages, involuntary rapid eye movement, progressive vision problems and seizures can occur. Causes Seitelberger Disease is inherited as an autosomal recessive trait. Some medical researchers believe that Seitelberger Disease may be the infantile form of Hallervorden-Spatz Syndrome. (For more information on this disorder, choose "Hallervorden" as your search term in the Rare Disease Database.) Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Seitelberger Disease usually begins before the age of two years. This disorder affects males and females in equal numbers. Related Disorders Hallervorden-Spatz Disease is a disorder which causes degeneration of the central nervous system. Usually beginning at about age eight, this disorder may occur anytime between birth to twenty years of age. A person with Hallervorden-Spatz Disease may develop slow steady muscle contractions thereby distorting limbs, neck, face, mouth or trunk into certain unnatural positions (Dystonia). Muscular rigidity (uncontrolled tightening of the muscles) or spontaneous nonrepetitive slow writhing movements (usually of the arms or legs) can also occur. Muscle spasms (Spasticity) may be present in one-third of affected individuals. Late Infantile Metachromatic Leukodystrophy usually affects children less than two years of age. This disorder is characterized by muscle coordination impairment, rigidity, mental deterioration and in some cases, convulsions. It is inherited as an autosomal recessive trait. Much is known about the origin of this disorder and genetic counseling is now possible. (For more information on the above disorders, choose "Hallervorden," "Torsion Dystonia," and "Metachromatic Leukodystrophy" as your search terms in the Rare Disease Database.) Primary Optic Atrophy can be a symptom of Seitelberger Disease affecting the eyes. Primary Optic Atrophy causes diminished visual acuity and decreased ability to see light. Symptoms may be caused by degeneration, shrinkage or disappearance of nerve fibers. Therapies: Standard Treatment of Seitelberger Disease is symptomatic and supportive. Genetic counseling may be of benefit to families of patients with this disorder. Services for visually and/or mobility impaired people may be of assistance to people with Seitelberger Disease. Therapies: Investigational This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Seitelberger Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Children's Brain Diseases Foundation For Research 350 Parnassus, Suite 900 San Francisco, CA 94117 (415) 566-5402 (415) 565-6259 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 896-3211 (800) 728-5483 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France National Ataxia Foundation 750 Twelve Oaks Center 15500 Wayzata Blvd. Wayzata, MN 55391 (312) 473-7666 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References NEUROAXONAL DYSTROPHY IN CHILDHOOD. REPORT OF TWO SECOND COUSINS WITH HALLERVORDEN-SPATZ DISEASE, AND A CASE OF SEITELBERGER'S DISEASE: K. Kristensson, et. al.; Acta Paediatr Scand (Nov. 1982, issue 71(6)). Pp. 1045-1049. HISTOLOGICAL AND ULTRASTRUCTURAL FEATURES OF DYSTROPHIC ISOCORTICAL AXONS IN INFANTILE NEUROAXONAL DYSTROPHY (SEITELBERGER'S DISEASE): M.H. Mitchell, et. al.; Acta Neuropathol (Berl) (1985, issue 66(2)). Pp. 89-97.