Familial Dysautonomia, also known as Riley-Day syndrome, affects the development and function of nerves throughout the body. The genetic disorder affects both the sensory nervous system and the autonomic nervous system, leading to symptoms and complications that may shorten lifespan.
Who is at Risk?
Ashkenazi Jews are at the highest risk for Familial Dysautonomia. It is estimated that one in 3,700 people of Ashkenazi Jewish descent suffer from the condition. There are very few cases outside the Jewish population.
The condition is genetic. Both parents must be carriers of the defective gene on chromosome 9 to inherit Familial Dysautonomia. Parents may not present with symptoms of the disorder.
Less than 600 cases have been registered with the Dysautonomia Foundation since 1970. Of those registrations, 33% were from the New York City area and 33% were from Israel.
The symptoms of Familial Dysautonomia are first recognized in infanthood. As a child ages, symptoms grow worse. The most common symptoms include:
- Difficulty eating
- Profuse sweating while eating
- Recurrent pneumonia
- Recurrent fever
- Blotchy skin
- Lack of tear production or dry eyes
- Lack of coordination
- Inability to walk without help
- Growth retardation
- High blood pressure
Due to difficulty eating and prolonged vomiting, patients with Familial Dysautonomia may suffer from reduced muscle tone and excessive weight loss. Patients may have trouble swallowing or drool uncontrollably. Over time, patients suffer from insomnia and may appear irritable.
After parents notice symptoms of Familial Dysautonomia, doctors will perform a physical exam to rule out the condition. The physical exam entails checking muscle tone, measuring blood pressure and checking the spine for scoliosis. If the patient shows signs of Familial Dysautonomia, a genetic test will be ordered to finalize the diagnosis.
There is no cure for Familial Dysautonomia. Patients are treated for symptoms of the disease. Common treatments include:
- Seizure medications
- Altered feeding position
- Anti-nausea medications
- Breathing treatments for pneumonia
- Spinal surgery
- Physical therapy
There is no specific course of treatment for patients with Familial Dysautonomia. Each case presents with different symptoms and thus treatment protocols will differ from one patient to the next.
Medical advances have extended the lifespan of patients with Familial Dysautonomia. Even with medical advances, however, only 50% of patients live to 30 years old. The oldest living patient with Familial Dysautonomia died at the age of 61. Life expectancy often depends on the severity of the condition. There are mild, moderate and severe forms of the disorder.