Familial dysautonomia

Familial dysautonomia (FD), also known as Riley-Day syndrome or Hereditary sensory and autonomic neuropathy type III, is a rare genetic disorder that affects the autonomic nervous system. The disorder is characterized by a variety of symptoms, including difficulty swallowing, insensitivity to pain, and unstable blood pressure.

Symptoms

The symptoms of familial dysautonomia can vary greatly from person to person. Some of the most common symptoms include:

• Difficulty swallowing (Dysphagia)
• Insensitivity to pain (Analgesia)
• Unstable blood pressure (Hypotension or Hypertension)
• Poor growth and development
• Frequent lung infections
• Abnormal sweating
• Difficulty with balance and coordination (Ataxia)

Causes

Familial dysautonomia is caused by mutations in the IKBKAP gene. This gene provides instructions for making a protein that is involved in the development of nerve cells, particularly those in the autonomic nervous system. Mutations in the IKBKAP gene disrupt the normal development of these nerve cells, leading to the symptoms of familial dysautonomia.

Diagnosis

Diagnosis of familial dysautonomia is based on the presence of characteristic symptoms, a family history of the disorder, and genetic testing. Genetic testing can identify mutations in the IKBKAP gene that cause the disorder.

Treatment

There is currently no cure for familial dysautonomia. Treatment is aimed at managing symptoms and preventing complications. This may include medications to manage blood pressure, physical therapy to improve balance and coordination, and special diets to manage swallowing difficulties.

Prognosis

The prognosis for individuals with familial dysautonomia varies. Some individuals have a normal lifespan, while others may have a shortened lifespan due to complications such as lung infections or sudden drops in blood pressure.

See also

• Autonomic nervous system
• Genetic disorder
• IKBKAP

References

Familial dysautonomia Resources
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