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What

Dysautonomia syndrome is a rare, inherited, genetic disorder that is characterized by the abnormal development and survival of nerve cells in the body. Affected nerve cells gradually lose their function, which causes the many organs and muscles of the body to function improperly.

Who

The frequency of dysautonomia syndrome is not known in the general population however it is very high in the Ashkenazi Jewish population where close to 1 in every 3,700 persons can have the disorder. Males and females are equally affected.

Signs and Symptoms

Children with dysautonomia syndrome may exhibit all of the following: • Diminished muscle tone • Abnormal sensitivity to pain and temperature changes • Delay in motor milestones (walking, jumping, kicking, etc) • Recurrent episodes of pneumonia • Abnormal spinal curvature (scoliosis) • Uncoordinated swallowing mechanism • Gastroesophageal reflux (heartburn, vomiting) • Breath holding episodes • Wide or broad based walk • Absence or inappropriately low amount of tears • Abnormal sense of taste, especially sweet foods • Abnormal behavior – skin picking and extreme resistance to change. • Autonomic crisis: excessive sweating of the head, blotchy red rash on face, high blood pressure and heart palpitations, nausea and vomiting, drooling, and irritability.

Possible Causes

Dysautonomia syndrome is caused by a defect in the gene called IKBKAP. This defect is inherited in an autosomal recessive fashion. In order for a child to be affected, he/she must inherit two defective copies of the IKBKAP gene, one from each carrier parent. The IKBKAP gene is involved in how cells in the body express other genes.

Diagnosis

Making the diagnosis of dysautonomia syndrome relies upon the recognition of the aforementioned symptoms and identifying Jewish ancestry. There are tests that your doctor can perform to help solidify the diagnosis. The Schirmer test can be used in infants older than six months to demonstrate the absence of tears when filter paper is placed on the lower eyelid. Another test that can be used is the administration of low concentration eye drops (pilocarpine) that have no effect in normal eyes but cause prolonged dilation in the eyes of patients with dysautonomia. The ultimate diagnosis is made by special genetic blood tests.

Treatment

There is no cure for dysautonomia syndrome. The focus of treatment is to manage each symptom when it becomes evident. Most important in the care of infants is to thicken feeds and to implement special feeding nipples to minimize the possibility of aspiration (passage of food into the lungs). Acid reflux is managed by feeding the child with small amounts, frequently, and in an upright position. Antacid medication also helps. If the child vomits excessively, valium can be prescribed. Children should be screened every year for abnormal curvature of the spine with x-rays and a special brace should be used if required. Artificial tears and soft contact lenses can be used. Corneal transplants have had limited success. Consultation with eye specialists, neurologist, and geneticist are essential.

Prognosis

Most children with dysautonomia have a shortened life span with close to 60% of patients surviving to age 20. The most common causes of death include: lung disease, kidney disease, and overwhelming infection.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Familial Dysautonomia Webpage http://www.familialdysautonomia.org/ Non-profit organization with good links to advocacy and support. American Autonomic Society http://www.mc.vanderbilt.edu/gcrc/aas/ Primarily for healthcare providers but useful to technically oriented persons. Familial Dysautonomia Hope Foundation, Inc. (FD Hope) http://www.fdhope.org Founded by families affected by FD. Shy-Drager/Multiple System atrophy Support Group, Inc. http://www.shy-drager.com Support group and connections to references. Website currently under re-construction.

Google Search for Dysautonomia

References and Sources

Axelrod, F.B. (2004) Familial Dysautonomia. Muscle Nerve 29(3):352-63. Slaugenhaupt, S.A. and Gusella, J.F. (2002) Familial Dysautnomia. Curr Opin Genet Dev. 12(3):307-11.