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Familial dysautonomia

Familial dysautonomia: Introduction

Familial dysautonomia: An inherited biochemical disorder that primarily affects the autonomic and sensory nervous system. More detailed information about the symptoms, causes, and treatments of Familial dysautonomia is available below.

Symptoms of Familial dysautonomia

Home Diagnostic Testing

Home medical testing related to Familial dysautonomia:

Wrongly Diagnosed with Familial dysautonomia?

Familial dysautonomia: Related Patient Stories

Familial dysautonomia: Complications

Review possible medical complications related to Familial dysautonomia:

Causes of Familial dysautonomia

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Disease Topics Related To Familial dysautonomia

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

Familial dysautonomia: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Familial dysautonomia

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as ...read more »

Familial dysautonomia: Research Doctors & Specialists

Research related physicians and medical specialists:

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Evidence Based Medicine Research for Familial dysautonomia

Medical research articles related to Familial dysautonomia include:

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Research about Familial dysautonomia

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Statistics for Familial dysautonomia

Familial dysautonomia: Broader Related Topics

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Definitions of 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

 

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