$Unique_ID{BRK04229} $Pretitle{} $Title{Spina Bifida} $Subject{Spina Bifida Rachischisis Posterior Neural Tube Defect SB Spina Bifida Anterior Spina Bifida Cystica Spina Bifida Occulta Spina Bifida Posterior Caudal Regression Syndrome Clubfoot Hydrocephalus} $Volume{} $Log{} Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 28: Spina Bifida ** IMPORTANT ** It is possible that the main title of the article (Spina Bifida) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Rachischisis Posterior Neural Tube Defect SB DISORDER SUBDIVISIONS: Spina Bifida Anterior Spina Bifida Cystica Spina Bifida Occulta Spina Bifida Posterior Information on the following diseases can be found in the Related Disorders section of this report: Caudal Regression Syndrome Clubfoot Hydrocephalus 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. Spina Bifida is characterized by the lack of closure of the neural tube. Part of the contents of the spinal canal may protrude through this opening. In the most severe form, rachischisis, the opening is extensive. Spina Bifida may cause problems with bladder control, walking and a variety of other problems, depending on the severity of the symptoms. Symptoms Patients with Spina Bifida can have a wide variety of symptoms and physical findings based on the severity of the defect in the spine. The mildest form of the condition, Spina Bifida Occulta, causes few if any symptoms, and may go undetected. In this mild form, the lack of closure of the neural tube affects only a small area of the spine and is found on x-rays. The disorder may be suspected because of a dimple or tuft of hair on the back overlying the affected area. Impaired bladder control is a common finding, even with relatively mild forms of the condition. In more severe forms of Spina Bifida a sac (meningocele or miningomyelocele) may protrude from the lower back. This sac may be small or it may be as large as a grapefruit. The meningocele may be covered with skin, or the nerve tissue may be exposed. Generally the sac contains cerebrospinal fluid (CSF). The malformation of the lower spinal cord causes abnormalities of the lower trunk and extremities of varying severity. If the condition is mild, the person may only experience some muscle weakness and impaired skin sensations. In patients with meningocele, accumulation of cerebrospinal fluid in the brain results in enlargement of the head (hydrocephalus) and possible brain damage. Although Spina Bifida is usually present at birth, it occasionally is first seen during adolescence. The rapid growth during this time stretches the shortened nerves and may cause progressive weakness. Causes The exact cause of Spina Bifida is not known. Hereditary and other prenatal factors may contribute. The role of vitamins and folic acid during pregnancy is being investigated. Prenatal medical care is important for the development of a fetus. Affected Population Spina Bifida occurs in approximately 1 in 2,000 live births in the United States. The disorder is more frequent in Ireland and Wales and less common in Israel and among the Jewish population in general. Spina Bifida is also 3 to 4 times more common among lower socioeconomic groups of all cultures. Related Disorders Symptoms of the following disorder can be similar to those of Spina Bifida. Comparison may be useful for a differential diagnosis: Caudal Regression Syndrome is a rare disorder characterized by the abnormal development of the lower (tail) end of the developing fetus. A wide range of abnormalities may occur. There may be a partial absence of the tail-bone at the lower end of the spine or there may be extensive abnormalities of the lower vertebrae, pelvis and spine. Symptoms may include paralysis or numbness of the legs, underdeveloped muscles, clubfoot, kidney abnormalities and pelvic swelling. A less common abnormality associated with Caudal Regression Syndrome is hydrocephalus. (For more information on this disorder, choose "Caudal Regression Syndrome" as your search term in the Rare Disease Database). The following disorders may be associated with Spina Bifida as secondary characteristics. They are not necessary for a differential diagnosis: Hydrocephalus is a condition in which the dilated cerebral ventricles (spaces in the brain) inhibit the normal flow of cerebrospinal fluid (CSF). The fluid accumulates in the head and puts pressure on the brain. The result is an enlarged head. Symptoms may include a thin, transparent scalp, a bulging forehead and a downward gaze. There may be convulsions, headache, irritability, general weakness and problems with vision. This disorder may occur along with Spina Bifida. (For more information on this disorder, choose "Hydrocephalus" as your search term in the Rare Disease Database). Clubfoot is a term used to describe several kinds of congenital ankle and foot deformities. Generally the heel turns outward from the midline and the front part of the foot is elevated. Clubfoot is not painful and generally causes no problems until the infant begins to walk or stand. At that point, the defect causes the child to walk as if on a peg leg. If both feet are affected, the child usually walks on the balls of the feet. This disorder may occur along with Spina Bifida. Muscle imbalance or spasticity may cause a twisting of a normal foot in children with Spina Bifida. (For more information on this disorder, choose "Clubfoot" as your search term in the Rare Disease Database). Therapies: Standard The U.S. Public Health Service (PHS) advises women of childbearing age to take 0.4 mg of Folic Acid daily, either through diet or low dose supplements. Women are urged not to take more than 1.0 mg of folic acid daily unless advised by a physician because high doses of folic acid can mask other vitamin deficiencies. The mildest cases of Spina Bifida may not require treatment. The moderate cases require a decision as to whether or not surgery is advisable. Surgery may prevent the worsening of the condition in some instances, but cannot restore the lost function. In those extreme cases where the sac (meningocele) breaks or appears about to break, immediate surgery becomes essential. Surgeons have operated on Spina Bifida patients of all ages beginning from a few hours after birth. When hydrocephalus is a complication, surgery to shunt (drain) the excess cerebrospinal fluid (CSF) away from the brain is extremely beneficial. Some surgeons are now using a coiled catheter when the shunt operation is performed on children to allow for catheter expansion as the child grows. It is quite common for patients with Spina Bifida to develop contractures (shortening of the muscles) and abnormalities of posture. This is due to the paralysis of muscles in the legs. A child with Spina Bifida should have the necessary therapy (orthopedic and physical) beginning at an early age to prevent such contractures. The family doctor or the orthopedist may prescribe corrective shoes, braces, crutches, or other devices. These help the patient to make the most effective use of their weakened muscles, and to prevent the arms and legs from being maintained in an improper or awkward position. Deformities from "frozen" ankles, knees, or hips often can be prevented by range of motion exercises. These exercises may be started when the infant is only a few days old, and are generally done 3 to 4 times a day initially under a doctor's supervision. The goal of this routine is to keep the joints movable and to keep the leg muscles from shortening and causing contractures. Parents and care givers may learn these simple movements but always with their doctor's advice. In some cases of Spina Bifida, surgery involving the transfer of tendons to restore proper muscle balance may be helpful. Therapies: Investigational Spina Bifida, hydrocephalus, and related birth defects are constantly under investigation. Scientists are seeking answers to the cause, prevention, and treatment of these disorders. Researchers have been studying the effects of drugs and chemicals on central nervous system development. They are studying how viruses, drugs, vitamins and other agents may influence the way the nervous system develops and grows during the earliest stages of a fetal development. In July 1991, the Centers for Disease Control (CDC) in Atlanta, GA reported cases of extreme life-threatening allergic reactions (anaphylactic shock) to latex occuring in children who have undergone surgery for Spina Bifida. Children with Spina Bifida seem to have an extreme hypersensitivity to latex. Latex is commonly used in many medical products such as gloves, endotracheal tubes, and urinary catheters. It has been suggested that any elective surgeries be postponed until the reason for the increased risk of anaphalaxis in children with Spina Bifida can be determined. If a surgical procedure cannot be postponed, then caution should be taken to avoid or minimize any contact with latex. Other investigators are studying alternate methods of draining fluid from the brain without surgery. They also are studying biochemical changes in parts of the brain affected by hydrocephalus, with the hope of preventing possible brain damage. A large project at the National Institute of Neurological Disorders and Stroke (NINDS) is studying 55,000 mothers and their offspring. The conditions leading to Spina Bifida and other abnormalities of the newborn are expected to be understood more clearly when the data are analyzed from this large study. The Institute is cooperating with 12 medical centers throughout the Nation in collecting and analyzing detailed information. Researchers in the United States, England and Hungary are investigating the effects of folic acid and/or the use of multivitamins with folic acid as a way of preventing the development of Neural Tube Defects in mothers who had previous pregnancies with this defect. The study suggests that folic acid may play a role in preventing some Neural Tube Defects. This disease entry is based upon medical information available through January 1993. 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 Spina Bifida, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Spina Bifida Association of America 4590 Macarthur Blvd., NW, #250 Washington, DC 20007-4226 (202) 944-3285 (800) 621-3141 The National Easter Seal Society for Crippled Children and Adults 70 E. Lake St. Chicago, Illinois 60601 (312) 726-6200 (voice) (312) 726-4258 (TDD) NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Spina Bifida Association of Canada 633 Wellington Crescent Winnepeg, Manitoba R3M 0A8 Canada International Federation for Hydrocephalus and Spina Bifida c/o RBU Gata 3 11138 Stockholm Sweden Contact: David Bagares For genetic information 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 THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1951. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1028-1029. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2239-2240. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1120-1121. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 976-977. SPINA BIFIDA TODAY, D.G. McLone; Semin Neurol (Sept 1989; 9(3)): Pp. 169- 175. THE MANAGEMENT OF CHILDREN WITH SPINAL DYSRAPHISM, G.S. Liptak et al.; J Child Neuro (Jan 1988; 3(1)): Pp. 3-20. Mortality Morbidity Weekly: September 11, 1992; 41:Suppl RR 14:1-7.