Gourt > Health > Conditions and Diseases > Neurological Disorders > Autonomic Nervous System > Familial Dysautonomia
Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, inappropriate perception of heat, pain, and taste, as well as unstable blood pressure and gastrointestinal dysmotility. FD does not affect intelligence. Originally reported by Riley et al in 1949, FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies *. All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. The disorders are believed to be genetically distinct from each other.
Incidence
FD is seen almost exclusively in Ashkenazi Jews and is inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in Jewish individuals of Eastern European (Ashkenazi) ancestry is about 1/30, while the carrier frequency in non-Jewish individuals is about 1/3000. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of familial dysautonomia.
There have been 590 cases in total. Currently there are 350 people living with this condition worldwide.
More on [ Familial dysautonomia ]
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Cure-FD Foundation - Peruse the latest news on the work being done in finding a cure as well as finding information on Familial Dysautonomia.
Meta Description: [ Familial Dysautonomia, FD, is a degenerative, fatal, genetic neurological disease that affects children immediatly at birth. This site is dedicated to helping researchers find a cure for FD. ]
Dysautonomia Foundation - Familial dysautonomia, press releases, information on summer camps for kids and adults, details about the organization and FD itself.
Meta Description: [ Familial Dysautonomia (FD) -- The Dysautonomia Foundation serves the needs of the familial dysautonomia (FD) community. Familial dysautonomia is a genetic disorder that affects the autonomic and sensory nervous systems, primarily among Ashkenazi or Eastern European Jews. ]
Dysautonomia Treatment and Evaluation Center - NYU School of Medicine Department of Pediatrics and Department of Neurology offers genetic information and counseling, patient care and staff information.
FD Home Page - A description of familial dysautonomia with a look at he clinical symptoms, diagnosis, genetics and genetic testing, and prevention and treatment.
Fordham University: Berish Y. Rubin - Professor's research effort focuses on the molecular biology of Familial Dysautonomia at the Department of Biological Sciences.
Jewish Genetic Disease - A definition of familial dysautonomia, its inheritance patterns and symptoms.
NORD: Familial Dysautonomia - Offers synonyms, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
The American Journal of Human Genetics - Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder.
Meta Description: [ In the March issue of The American Journal of Human Genetics,
two groups report that mutations in the IKBKAP gene, encoding
the protein IKAP, cause Familial Dysautonomia (FD). Two
single base pair mutations in this gene account for nearly
100% of FD cases, and this finding will revolutionize gene... ]
The CaF Directory - An article about familial dysautonomia and its inheritance patterns. Also information about a support group for those living in the UK.
Meta Description: [ Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. ]
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