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Familial dysautonomia

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Familial dysautonomia
Pathology
Type

Genetic

Cause(s)

Mutations on chromosome 9

Symptoms

Delayed speech and walking in infants, unsteady gait, curvature of spine, abrasion of cornea, poor perception of pain and temperature, poor growth, unstable blood pressure, red puffy hands

Mortality Rate

Average life expectancy of 30 years

Treatments

Addressing ongoing symptoms and major complications

Show Information
  [Source]

Familial dysautonomia is a genetic condition of the autonomic nervous system.that results in insensitivity to pain, inability to form tears, poor growth and unstable blood pressure. Patients often suffer from vomiting, pneumonia, speech and movement disorders, difficulty swallowing, difficulty properly perceiving heat and taste, and problems of the digestive tract. However, patients have normal intelligence.

Familial dysautonomia at Wikipedia

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