Familial dysautonomia is a genetic disease that affects one in 30 Jews of Eastern European descent.
Familial dysautonomia, or FD, is an autosomal recessive genetic disorder. This means that every individual who has FD has inherited one copy of the mutation from each parent. Carriers are those who have inherited only one copy of the mutation and do not know they are carriers until they have a child with FD.
FD has detrimental affects on the autonomic and sensory nervous systems. One of its causes is the body's lack of dopamine beta-hydroxylase, a substance in the body that controls the functions of the autonomic and sensory nervous systems. These systems are responsible for involuntary bodily functions such as sensation, blood pressure and temperature regulation, swallowing and digestion.
Some common symptoms of familial dysautonomia include lack of tear production during emotional crying, difficulty in swallowing, problems with temperature and blood pressure regulation, pneumonia, scoliosis and seizures.
FD is a fatal disease with approximately 50% of patients reaching thirty years of age.
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