Diagnosing Familial Dysautonomia

Doctors at the Dysautonomia Center are experienced in identifying signs and symptoms of familial dysautonomia in babies, children, and young adults. Most people are diagnosed with the condition during infancy. Symptoms continue throughout life, but can be managed with ongoing treatment. After diagnosis, our experts develop an individualized treatment plan to monitor for and prevent life-threatening complications and improve quality of life. Care for children who have familial dysautonomia is provided at the Dysautonomia Center through Hassenfeld Children’s Hospital at NYU Langone.

Familial dysautonomia is an inherited condition that prevents the normal development of autonomic and sensory nervous systems. The autonomic system controls involuntary organ functions, such as breathing, heart rate, blood pressure, sweating, and digestion. The sensory system gathers information from the body—such as pain, temperature, and muscle tension—and uses it to coordinate autonomic functions—such as reflexes, balance, and tear production.

Familial dysautonomia is caused by one of two mutations in a gene called IKBKAP, which makes a protein called IκB kinase complex associated protein (IKAP). IKAP is essential for the development of sensory nerve cells that send messages from the body to the brain. The brain uses these messages to coordinate the body’s reactions, enabling people to swallow safely, fine tune their movements, regulate blood pressure, and move away from painful stimuli, for instance.

Signs and Symptoms in Babies and Young Children

The first signs of familial dysautonomia appear during infancy. Babies usually have difficulty coordinating their ability to suck and swallow, leading to feeding problems. They may also have low muscle tone and weak or absent reflexes.

Together, these problems can cause babies and young children to aspirate, or “breathe,” fluid and mucus into the windpipe and lungs, causing gastroesophageal reflux disease, severe vomiting, and frequent respiratory infections.

Babies with familial dysautonomia may have blotchy reddening of the skin when excited or feeding. Babies and children with this condition may need help getting enough calories to gain weight and grow normally.

Familial dysautonomia frequently causes breathing problems. Many children have life-threatening episodes of sleep apnea, a condition that interrupts breathing during sleep. Our team works closely with pulmonologists and sleep experts to address your child’s sleep apnea.

Because children with familial dysautonomia also have reduced sensitivity to pain and temperature, they frequently injure or burn themselves.

In some children, the condition may cause learning difficulties or emotional problems.

Signs and Symptoms in Older Children and Adults

Familial dysautonomia is a lifelong condition that continues to present challenges as a child develops. Many children and adults with the condition have difficulty coordinating movement and walking, which can lead to frequent falls. Orthopedic problems such as scoliosis, or abnormal curvature of the spine, can also occur in children or teenagers, who may have difficulty maintaining normal posture.

During times of stress, people may experience dramatic surges in blood pressure, which can be accompanied by vomiting or retching. These symptoms are known as hypertensive vomiting crisis. Over time, repeated blood pressure swings can cause kidney and heart damage.

Many children and adults who have familial dysautonomia develop vision problems because the condition can progressively damage nerves in the eye. Decreased tear production due to the condition can cause dry eye. Our specialists perform annual eye exams and help coordinate care with eye specialists to preserve sight.

Diagnosis in Babies and Children

Familial dysautonomia can sometimes be detected though prenatal screening tests before a child is born.

If your child’s doctor suspects that your baby has familial dysautonomia, he or she examines the baby for signs of the condition, such as muscle weakness and poor or absent reflexes. The doctor also reviews your baby’s medical history to see if he or she has had difficulty gaining weight and growing.

For older children, the doctor may ask about your child’s history of injuries, difficulties with balance and coordination, breathing problems, and respiratory infections.

Genetic Test

After a physical exam and medical history, our specialists use genetic testing to confirm a diagnosis of familial dysautonomia. Doctors take a small sample of your child’s blood and send it to a laboratory for analysis. The laboratory looks for two copies of the abnormal IKBKAP gene.