What are the other Names for this Condition? (Also known as/Synonyms)

• Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III)
• HSAN3 (Hereditary Sensory and Autonomic Neuropathy Type III)
• Riley-Day Syndrome

What is Familial Dysautonomia? (Definition/Background Information)

• Familial Dysautonomia is a rare genetic disorder that affects the autonomic nervous system, leading to abnormalities in the development and function of various body systems, including the digestive system, heart and lungs, and bones and muscles.
• The disorder is also known as Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III). It primarily affects the sensory and autonomic nerves, causing a wide range of symptoms and complications
• The manifestation of this hereditary disorder occurs at birth and is primarily noted in Ashkenazi Jews. Mutations in the IKBKAP gene are responsible for Familial Dysautonomia, which leads to the characteristic features of the disorder 
• There is no cure for Familial Dysautonomia, and the disorder is treated symptomatically. With adequate management and follow-ups, the overall quality of life can be improved. However, Familial Dysautonomia is a lifelong condition, and the prognosis may vary depending on its severity

Who gets Familial Dysautonomia? (Age and Sex Distribution)

• Familial Dysautonomia is typically present from birth (congenital condition)
• It occurs almost exclusively in individuals of Ashkenazi Jewish descent, with a higher prevalence among those of Eastern European Jewish heritage

What are the Risk Factors for Familial Dysautonomia? (Predisposing Factors)

• The primary risk factor for Familial Dysautonomia is being of Ashkenazi Jewish descent
• Individuals with a family history of the condition are also at an increased risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Familial Dysautonomia? (Etiology)

Familial Dysautonomia is caused by mutations in the IKBKAP gene on chromosome 9.

• This gene is responsible for producing a protein called IKAP, which is involved in the development and function of the nervous system
• The specific genetic mutations lead to abnormal IKAP protein production, resulting in the characteristic features of the condition

What are the Signs and Symptoms of Familial Dysautonomia?

The signs and symptoms of Familial Dysautonomia may be mild or severe and can vary from one individual to another. These may include:

• Poor temperature regulation
• Difficulty swallowing and feeding problems in infancy
• Unstable blood pressure and heart rate
• Impaired sensory perception, including diminished pain and temperature sensation
• Gastrointestinal dysfunction, including reflux, vomiting, and poor weight gain
• Absence of tears and reduced saliva production
• Frequent lung infections
• Delayed motor development and muscle weakness

How is Familial Dysautonomia Diagnosed?

A diagnosis of Familial Dysautonomia may involve the following tests and exams:

• Clinical evaluation: A thorough assessment of symptoms and medical history, along with a physical examination, can help in the diagnosis
• Laboratory tests, as needed
• Radiological imaging studies
• Autonomic function tests: These tests evaluate the function of the autonomic nervous system, such as heart rate response to deep breathing or blood pressure response to changes in body position
• Genetic testing: Analysis of the IKBKAP gene can confirm the presence of genetic mutations associated with Familial Dysautonomia

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Familial Dysautonomia?

The complications of Familial Dysautonomia may include:

• Aspiration pneumonia: Swallowing difficulties increases the risk of inhaling food or liquid into the lungs, leading to pneumonia
• Corneal ulcers: Decreased tear production can result in corneal drying and ulcers
• Scoliosis: Abnormal muscle tone and weakness can contribute to the development of spinal curvature
• Cardiovascular complications: Unstable blood pressure and heart rate can increase the risk of cardiovascular problems

How is Familial Dysautonomia Treated?

The treatment of Familial Dysautonomia may involve the following measures:

• Symptomatic management:
  • With an aim to alleviate specific symptoms and complications
  • This may involve medications for gastrointestinal symptoms, respiratory support, physical therapy, and nutritional interventions
• Multidisciplinary care: A team of healthcare professionals, including neurologists, geneticists, pulmonologists, and other specialists, collaborate to provide comprehensive care

How can Familial Dysautonomia be Prevented?

Familial Dysautonomia is a genetic condition, and currently, there are no known preventive measures to stop its occurrence. Genetic counseling can be helpful for families with a history of the condition, providing information about the risks and options for family planning.

What is the Prognosis of Familial Dysautonomia? (Outcomes/Resolutions)

• Familial Dysautonomia is a chronic condition that requires lifelong management. The prognosis can vary depending on the severity of symptoms and the presence of complications. Nevertheless, generally, life expectancies are short
• With appropriate medical care and supportive therapies, individuals with Familial Dysautonomia can have an improved quality of life and lifespan

Additional and Relevant Useful Information for Familial Dysautonomia:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/