Description Familial dysautonom...
Description
Familial dysautonomia is an inherited disorder that affects the nervous system. People with this disorder are born with fewer nerve fibers to send signals throughout the body. They also have a lower level of a chemical called norepinephrine which is responsible for sending messages between nerves. As a result, these individuals have trouble with many important bodily functions such as digestion, urination and control of blood pressure. The disease occurs when a copy of the IKBKAP gene is passed from the mother and father to the child. The disease is most common in individuals who are Jewish from eastern European descent (Ashkenazi). It is estimated that 1 in 3600 of these individuals will have this disorder.
Symptoms
Symptoms include poor feeding, frequent choking, vomiting, lung infections, lack of tearing and poor weight gain. Decreased muscle tone, loss of bladder control and abnormally high blood pressure with excitement are also common symptoms. Seizures occur in about 40% of cases.
Tests
Common tests used for diagnosis and treatment
Workup:
A complete history and physical will be performed. The diagnosis can often be made based on symptoms and family history. A histamine test may be performed to confirm the diagnosis. This test places a small amount of a substance called histamine under the skin with a needle. Normally the body would react by forming a raised, red bump called a wheal. Individuals with familial dysautonomia are unable to produce this response. Genetic testing also may be done to look for the mutated IKBKAP gene.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Urinalysis (UA)
Other Specific Tests: histamine test, genetic testing
Specialists:
Pediatrics, Pediatric Surgery, Pediatric Neurology, Clinical Genetics
Workup:
A complete history and physical will be performed. The diagnosis can often be made based on symptoms and family history. A histamine test may be performed to confirm the diagnosis. This test places a small amount of a substance called histamine under the skin with a needle. Normally the body would react by forming a raised, red bump called a wheal. Individuals with familial dysautonomia are unable to produce this response. Genetic testing also may be done to look for the mutated IKBKAP gene.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Urinalysis (UA)
Other Specific Tests: histamine test, genetic testing
Specialists:
Pediatrics, Pediatric Surgery, Pediatric Neurology, Clinical Genetics
Treatment
Treatment is focused on relieving symptoms and preventing complications. Medicines may be used to control seizures, high blood pressure and bladder control problems. A feeding tube may be inserted into the stomach to provide nutrition if swallowing becomes too difficult.