Familial dysautonomia

Familial Dysautonomia

Familial dysautonomia (pronounced: fuh-MILL-ee-ul dis-auto-NO-me-uh), also known as Riley-Day syndrome or Hereditary sensory and autonomic neuropathy type III, is a rare genetic disorder that affects the nervous system. The term is derived from the Greek words familia meaning family, dys meaning bad or difficult, and autonomia meaning self-governance.

Definition

Familial dysautonomia is a disorder of the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It is characterized by insensitivity to pain and temperature, and a multitude of other complications.

Symptoms

The symptoms of familial dysautonomia include difficulty swallowing (dysphagia), insensitivity to pain and temperature, unstable blood pressure, and frequent lung infections due to aspiration of food or liquids. Other symptoms may include poor growth, lack of tears, and a smooth, dry tongue.

Causes

Familial dysautonomia is caused by mutations in the IKBKAP gene. It is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of familial dysautonomia is based on clinical criteria and can be confirmed by genetic testing of the IKBKAP gene.

Treatment

There is no cure for familial dysautonomia, but treatment can help manage symptoms. This may include medications to improve blood pressure and gastrointestinal function, physical and occupational therapy, and in some cases, surgery.

Prognosis

The prognosis for individuals with familial dysautonomia varies. Some individuals have a normal lifespan, while others may have life-threatening complications at a young age.

See also

• Autonomic nervous system
• IKBKAP
• Autosomal recessive

External links

• Medical encyclopedia article on Familial dysautonomia
• Wikipedia's article - Familial dysautonomia

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