Dysautonomia, Familial

Dysautonomia, Familial

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Dysautonomia, Familial is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • FD
  • Hereditary Sensory and Autonomic Neuropathy, Type III (HSAN, Type III)
  • Hereditary Sensory Neuropathy Type III
  • HSAN-III
  • HSN-III
  • Riley-Day Syndrome

Disorder Subdivisions

  • None

General Discussion

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are apparent at birth. The autonomic nervous system controls vital involuntary body functions.

Symptoms

An infant born with familial dysautonomia typically has poor sucking ability, impaired swallowing reflexes, poor muscle tone (hypotonia), and/or abnormally low body temperature (hypothermia). Infants with this disorder may have cold hands and feet and experience unstable body temperature (from 94 to 108 degrees) during the course of infectious diseases. Profuse sweating and drooling may also occur. Crying without tears is one of the most striking symptoms of familial dysautonomia. Sometimes a lack of tears and insensitivity of the eyes to pain from foreign objects (corneal anesthesia) can lead to inflammation of the corneas and ulcerations in the eyes.



Children with familial dysautonomia have a decreased perception of pain and lack of sensitivity to hot and/or cold temperatures; this can result in unnoticed injuries to the skin. Unstable blood pressure is usually present in infants with familial dysautonomia. Blood pressure readings may vary greatly and may be abnormally high or low.



Other symptoms of familial dysautonomia may include the absence of the sense of taste, impaired speech, and/or red blotches on the skin that appear with emotional excitement. Approximately 40 percent of children with this disorder experience episodes of vomiting. Occasionally there may be skeletal defects, absence of tendon reflexes, stunted height, and/or repeated episodes of pneumonia due to the inhalation of food (aspiration).



By adolescence, 95 percent of individuals with familial dysautonomia have evidence of side-to side spinal curvature (scoliosis). In addition, they may experience increased sweating and an accelerated heart rate. A decreased awareness of pain makes it difficult for children with this disorder to be aware of injuries; bone fractures may go unrecognized. Other symptoms that may appear during adolescence include weakness, leg cramps, and/or difficulty concentrating. Personality changes may also occur including depression, irritability, inability to sleep (insomnia), and/or negativism.



Approximately 20 percent of adults with familial dysautonomia over 20 years of age develop kidney insufficiency. Neurological deterioration also appears and unsteadiness in walking may become more apparent at this age.



A medical test is available that can determine if an infant has familial dysautonomia. Histamine is injected under the skin and response is measured along nerve cell fibers (axon flare). A lack of response confirms the diagnosis of familial dysautonomia.

Causes

Familial dysautonomia is inherited as a recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, 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 for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.



Researchers have identified the gene that causes familial dysautonomia. Two mutations of the gene known as IKBKAP can cause FD. A carrier test is now available for all Ashkenazi Jews. Consult your local physician for details.

Affected Populations

Familial dysautonomia is a rare genetic disorder that affects males and females in equal numbers. This disorder primarily affects infants of Ashkenazi Jewish or Eastern European ancestry; approximately 1 in 30 people of East European Jewish ancestry are thought to be carriers of the defective gene that causes this disorder.

Standard Therapies

Drugs used to relieve the symptoms of familial dysautonomia include diazepam, metoclopramide, and chloral hydrate. Artificial tears may be needed to lubricate the eyes.



Physical therapy, chest physiotherapy, occupational therapy, feeding facilitation, and/or speech therapy may also be useful to alleviate the symptoms of familial dysautonomia.



People with familial dysautonomia may also benefit from a variety of other orthopedic and ocular (vision) aids.



Genetic counseling will be of benefit for patients with familial dysautonomia and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov.



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



Felicia Axelrod, MD, of NYU Medical Center, is conducting several studies related to familial dysautonomia. For more information, interested individuals may wish to have their physicians contact:



Felicia B. Axelrod, MD

Dysautonomia Treatment and Evaluation Center

New York University Medical Center

530 First Ave., Suite 9Q

New York, NY 10016

(212) 263-7225

References

TEXTBOOK

Online Mendelian Inheritance in Man, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 768-769, 1345-1346.



Cecil Textbook of Medicine, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2246.



Principles of Neurology, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 453, 1033, 1056.



Principles and Practices of Medical Genetics, 2nd Ed.: Allan E.H. Emery & David L. Rimoin, Editors; Churchill Livingston Publishers, 1990. Pp. 397- 441.



JOURNAL ARTICLES

Anderson SL, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet. 2001;68:753-58.



Slaugenhaupt SA, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causing familial dysautonomia. Am J Hum Genet. 2001;68:598-605.



Bar-On E, et al. Orthopaedic manifestations of familial dysautonomia. A review of one hundred and thirty-six patients. J Bone Joint Surg Am. 2000;11:1563-70.



Abrams P. Sundays in the park with Brittany. Nursing. 2000;8:49-51.

Resources

Dysautonomia Foundation, Inc.

315 W 39th St

Suite 701

New York, NY 10018

USA

Tel: (212)279-1066

Fax: (212)279-2066

Email: info@famdys.org

Internet: http://www.familialdysautonomia.org



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Dysautonomia Foundation, Inc., Toronto Chapter

250 Franklin Avenue

Thornhill

Ontario, L4J 7K5

Canada

Tel: 9058827725

Fax: 9057647752

Internet: http://www.familialdysautonomia.org



National Dysautonomia Research Foundation

PO Box 301

Red Wing, MN 55066-0102

Tel: (651)327-0367

Email: ndrf@ndrf.org

Internet: http://www.ndrf.org



Familial Dysautonomia Hope Foundation

121 S. Estes Dr., Suite 205D

Chapell Hill, NC 27514

USA

Tel: (919)969-1414

Email: info@fdhope.org

Internet: http://www.fdhope.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Familial Dysautonomia Now Foundation

1170 Green Knolls Drive

Buffalo Grove, IL 60089

Tel: (847)913-0455

Fax: (847)913-8589

Email: fdnow@comcast.net

Internet: http://www.fdnow.org



Dysautonomia Youth Network of America, Inc.

1301 Greengate Court

Waldorf, OR 20601

Tel: (301)705-6995

Fax: (301)638-3962

Email: info@dynakids.org

Internet: http://www.dynakids.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.