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Dictionary » Familial dysautonomia
 

Familial dysautonomia

Introduction: Familial dysautonomia

Description of Familial dysautonomia

Familial dysautonomia (medical condition): An inherited biochemical disorder that primarily affects the...more »

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Familial dysautonomia:
  »Introduction: Familial dysautonomia
  »Symptoms of Familial dysautonomia

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: 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, 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.
Source: CRISP

Familial dysautonomia: Related Topics

These medical condition or symptom topics may be relevant to medical information for Familial dysautonomia:

Familial dysautonomia: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

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

Source - Orphanet

Familial dysautonomia as a Disease

Familial dysautonomia (medical condition): See Familial dysautonomia (disease information).
  »Introduction: Familial dysautonomia
  »Symptoms of Familial dysautonomia

Familial dysautonomia: Related Diseases

Familial dysautonomia: Familial dysautonomia is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Familial dysautonomia:

Familial dysautonomia as a Symptom

Familial dysautonomia (symptom): See Familial dysautonomia (symptom information).

More information on symptom: Familial dysautonomia:

Familial dysautonomia: Related Disease Topics

These medical disease topics may be related to Familial dysautonomia:

Terms associated with Familial dysautonomia:

Terms Similar to Familial dysautonomia:

Source: Diseases Database

Source - NIH

Broader terms for Familial dysautonomia

Source - CRISP

The term Familial dysautonomia can be used for:

Source: CRISP

Other terms that may be related to Familial dysautonomia:

Source: CRISP

External links related to: Familial dysautonomia

Source: Diseases Database

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