Familial Dysautonomia

Familial Dysautonomia (FD), also known as Riley-Day syndrome or Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III), is a rare genetic disorder that affects the development and function of the autonomic and sensory nervous systems. The autonomic nervous system controls involuntary functions like blood pressure, heart rate, digestion, and body temperature regulation.

This condition occurs almost exclusively in individuals of Ashkenazi Jewish descent, with a carrier frequency of about 1 in 30 in this population. Due to effective carrier screening programs, the incidence of new cases has dramatically decreased over the past decades.

Symptoms begin in infancy and include feeding difficulties, poor muscle tone, lack of tears when crying, unstable body temperature, and absence of certain reflexes. As affected individuals grow, they experience difficulty sensing pain and temperature (which can lead to unnoticed injuries), blood pressure instability causing dizziness or fainting, gastrointestinal problems, and episodes of autonomic crisis characterized by vomiting, hypertension, rapid heart rate, and sweating.

Familial dysautonomia is caused by mutations in the IKBKAP gene (also known as ELP1), which provides instructions for a protein important in nerve cell development. The condition is inherited in an autosomal recessive pattern. With improved management of symptoms and complications, many individuals now survive into adulthood.

NutraHacker examines the following gene related to Familial Dysautonomia:

• IKBKAP

For more information about your own genetic profile as related to Familial Dysautonomia, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.