What is Familial dysautonomia?

What is Familial dysautonomia?

• Familial dysautonomia: An inherited biochemical disorder that primarily affects the autonomic and sensory nervous system.
• Familial dysautonomia: An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
  Source - Diseases Database

Familial dysautonomia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Familial dysautonomia, or a subtype of Familial dysautonomia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Familial dysautonomia as a "rare disease".
Source - Orphanet

Familial dysautonomia: Introduction

How serious is Familial dysautonomia?

Complications of Familial dysautonomia: see complications of Familial dysautonomia

What are the symptoms of Familial dysautonomia?

Symptoms of Familial dysautonomia: see symptoms of Familial dysautonomia

Complications of Familial dysautonomia: see complications of Familial dysautonomia

Familial dysautonomia: Testing

Diagnostic testing: see tests for Familial dysautonomia.

Misdiagnosis: see misdiagnosis and Familial dysautonomia.

How is it treated?

Treatments for Familial dysautonomia: see treatments for Familial dysautonomia
Research for Familial dysautonomia: see research for Familial dysautonomia

Name and Aliases of Familial dysautonomia

Main name of condition: Familial dysautonomia

HSAN type 3, Riley-Day syndrome, Hereditary sensory and autonomic neuropathy type 3 Source - Diseases Database

Dysautonomia, familial, FD, HSAN III, HSN III, Hereditary sensory and autonomic neuropathy III, Hereditary sensory neuropathy type III, Riley Day syndrome, FD, HSAN III, HSN III, Hereditary sensory and autonomic neuropathy III, Hereditary sensory neuropathy type III, Riley Day syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Familial dysautonomia:

• Corneal abrasion
• Sweating
• Dysautonomia crisis
• Unsteady gait
• Spinal curvature

 » Next page: Prevalence and Incidence of Familial dysautonomia

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