familial dysautonomia


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dysautonomia

 [dis″aw-to-no´me-ah]
malfunction of the autonomic nervous system.
familial dysautonomia Riley-Day syndrome.

fa·mil·i·al dys·au·to·no·mi·a

[MIM*223900]
a congenital syndrome with specific disturbances of the nervous system and aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics; autosomal recessive inheritance. Mapped to human chromosome 9q31-q33.
Synonym(s): Riley-Day syndrome

familial dysautonomia

An autosomal recessive disorder (OMIM:223900) characterised by failure to thrive and progressive degeneration of sensory, sympathetic and parasympathetic neurons. Affected individuals have decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises and gastrointestinal dysfunction. Most patients are progeny of endogamous Ashkenazi Jews (incidence, 1:3:600 live births).

Molecular pathology
Defects in IKBKAP, which encodes a putative scaffold protein and subunit of the RNA polymerase II elongator complex, cause familial dysautonomia.

familial dysautonomia

Riley-Day syndrome Pediatric neurology An AR condition in Jews, which affects peripheral sensorimotor autonomic and CNS neurons Clinical FTT, episodic vomiting, URIs, autonomic dysfunction–skin blotching, lacrimation, temperature dysregulation, diaphoresis, HTN and postural hypotension, early death

fa·mil·i·al dys·au·to·no·mi·a

(FD) (fă-mil'ē-ăl dis'aw-tō-nō'mē-ă)
A congenital syndrome with aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics.

familial dysautonomia

An AUTOSOMAL RECESSIVE neurological disease affecting mainly Ashkenazi Jews and featuring a marked disturbance of the function of the autonomic nervous system. This results in feeding difficulties, excessive sweating, absence of tears, indifference to pain, reduced corneal sensitivity, emotional lability and red blotching of the skin.

Riley,

Conrad Milton, U.S. pediatrician, 1913–.
Riley-Day syndrome - a congenital syndrome, with specific disturbances of the nervous system and aberrations in autonomic nervous system function. Synonym(s): familial dysautonomia

fa·mil·i·al dys·au·to·no·mi·a

(fă-mil'ē-ăl dis'aw-tō-nō'mē-ă) [MIM*223900]
Congenital syndrome with specific disturbances of nervous system and aberrations in autonomic nervous system function, such as indifference to pain, diminished lacrimation, and poor vasomotor homeostasis.
References in periodicals archive ?
According to the authors, this new observation offers insight into what goes wrong in familial dysautonomia.
Many Jewish people already undergo screening for another mutation, one that causes the neural disorder Tay-Sachs disease Clinics will be able to use the same blood sample to test for familial dysautonomia, which is nearly as prevalent in this population as Tay-Sachs.
The findings will also spur research into potential treatments for people already beset by familial dysautonomia, says Berish Y Rubin, a molecular biologist at Fordham University in New York, who coauthored the other new study.
The affected gene is called IKBKAP When mutated, it encodes a defective version of a protein called IKAP While it's clear that lack of IKAP can cause familial dysautonomia, the normal function of the protein is unknown, Gusella says.
on Saturday morning, my 10-year-old son Andrew came into our room, and, as he has done so many times before, told us he was going into "crisis." Andrew has a very rare, fatal genetic disorder called familial dysautonomia (FD).
Ezra, now 5, has familial dysautonomia (FD), a genetic disease occurring primarily in Jews.

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