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Familial dysautonomiaImage:Autorecessive.png Familial dysautonomia, or FD, is a disorder of the autonomic nervous system resulting in variable symptoms including insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure. People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, and difficulty swallowing. FD does not affect intelligence.
IncidenceFD is seen almost exclusively in AshkenaziJews and is inherited in an autosomal recessivefashion. 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 counselingand genetic testingis 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. CauseFamilial dysautonomia is caused by mutation of the IKBKAPgeneon chromosome 9. This mutation results in a decreased amount of IKAP proteinin cells. Treatment and Treatment LocationsThere currently is no cure for FD and death occurs in 50% of affected individuals by age 30. There are only two treatement centers One at New York University Hosplital Dysautonomia Treatment and Evaluation Centerand one at the Hadassah Hopital Familial Dysautonomia Center. One is being planned for the San Fransico area Forward Article The survival rate and quality of life has increase since the mid 80's mostly due to greater understanding of the most dangerous symptoms. A major issue has been Aspiration Pneumonias, where food or regurgitated stomach content would be aspirated into the lungs causing infections. Fundoplacations (Nissen fundoplicationby preventing reguritation and gastrostemy tubes (to provide non oral nutrition) have reduced the frequency of hospitalization. Other issues which can be treated include FD Crisises, Scoliosis, and various eye conditions due to limited or no tears. An FD crisis is the bodies loss of control of various [Autonomic nervous system] functions including blood pressure, heartrate, and body temperature. Both short term and chronic periodic high or low blood pressure have conquences and medication is used to stabalise blood pressure. The FutureIn January of 2001, researchers at Massachusetts General Hospitalisolated the FD gene, a discovery that opens the door to many diagnostic and treatment possibilities. Although it probably won't happen for five or 10 years, some expect that stem-cell therapy will result. Eventually, treatment could be given in utero. While that may be years ahead, genetic screening became available around April2001, enabling Ashkenazi Jews to find out if they are carriers. In the mean time more research into treatments are being funded by the foundations that exist. These foundation are organized and run by parents of the of those with FD. There is very limited govermental support beyond recognizing those diagnosed with FD as eligible for certain programs. References
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Categories: Genetic disorders| Neurology
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