Familial dysautonomia (FD) is a rare genetic disorder that affects the nervous system. Its symptoms are characterized by a loss of sensitivity to pain, difficulty swallowing and breathing, and decreased blood pressure. The condition affects about 1 in 10,000 Ashkenazi Jews in the United States and Israel.
Although there is no cure for FD, medical care can help reduce its symptoms. This includes physical therapy and occupational therapy. In addition, a wide variety of medications can be prescribed to treat FD-related seizures. Medical professionals can also recommend a surgical intervention to improve a patient’s ability to swallow and breathe. Surgical treatment can include fundoplication and gastrostomy.
Other symptoms of FD include low muscle tone and increased sweating. Additionally, patients can experience accelerated heart rates and extreme swings in blood pressure. They may also have trouble forming tears or producing a proper breath. Some suffer from respiratory complications, such as pneumonia. People who have FD can also have a higher risk of kidney failure.
Patients with FD can develop bone fractures. However, these injuries may go unnoticed. Children with FD are not able to recognize an injury and will often not even know they have had an accident. A diagnosis of FD can be made by a doctor using a series of tests. An EEG, for example, is a procedure that allows doctors to watch the electrical signals in the brain as the patient moves through a series of activities. If the results show no response, the doctor will conclude that the patient has FD.
One of the most important aspects of treating FD is recognizing its underlying cause. Researchers have found that mutations in a gene called IKBKAP are associated with the disease. These mutations are located on chromosome 9q31. As a result, people with FD are born with two copies of the mutated gene. Both parents must carry this mutation in order for their child to have FD.
Approximately 25 percent of people who are carriers of this gene will have children who develop FD. During pregnancy, babies can be screened for the gene. Since the gene can be inherited, prenatal screening is important.
Among infants, a lack of tear production can lead to an inflammation of the cornea and ulceration of the eyes. Other infants with FD will have poor muscle tone and a poor swallowing reflex. Infants with FD may also experience profuse sweating.
People with FD can also suffer from a mysterious syndrome called autonomic crisis. Autonomic crisis occurs when the body’s nervous system becomes overstressed. Rapid changes in blood pressure and heart rate can occur, resulting in vomiting and excessive sweating. Many patients die of sudden death from this complication.
Familial dysautonomia is a debilitating condition that can affect a person’s life. Patients may require sedation and may need a feeding aid. While there is no known cure, research is being done to find new treatments. There are many support groups and advocacy efforts for people affected by this disease.
