Familial dysautonomia

One of the many hereditary sensory and autonomic neuropathies (HSAN) is called damilial dysautomomia (FD). This is a disorder that affects the nervous system and it is an inherited disease. It affects the cells that control the involuntary actions of the body like breathing, digestion, the production of tears and the normal regulation of body temperature and blood pressure. Other automatic activities of the nervous system like the five senses are also affected.

Both parents must be carriers of this disease for their child to be born with it. There is a one in four chance for parents to have a child born with this disease if they are both carriers. Familial Dysautonomia is a predominately exclusive disease found in individuals who are born of Eastern European Jewish ancestry, also known as Ashkenazi Jews. One in every 3600 babies born who are Ashkenazi Jews are born with this disease.

Symptoms of FD tend to make their appearance soon after birth. However, it can take longer to appear in some infants who have this disease. Babies born with this disease have difficulties in being able to swallow normally and difficulties in eating. They are also susceptible to pneumonia. As the infant grows older they are unable to produce tears. Delayed speech and slow growth is evident as well as delayed walking as the child grows. Children who have Familial Dysautonomia also are less able to feel pain and have problems with their blood pressure levels. Stressful situations can bring on vomiting, sweating, drooling, irregular heart beat and high blood pressure.

The cause of FD is a decreased amount of IKAP protein in the cells. The IKBKAP gene on chromosome 9 is mutated by one of three genetic mutations that cause the decrease in the IKAP protein. This disease has often been fatal in the past but new medical discoveries are improving the chances of survival.

School age children with this disease often wet the bed and exhibit poor balance and have curvature or scoliosis of the spine. Their bone quality is such that they are at risk of bone fractures. They also may experience heart or kidney problems. The problems with blood pressure can include low blood pressure upon standing. This causes them to be dizzy and they may faint. They may alternately experience episodes of high blood pressure. Blurred vision is also common. Learning disabilities are found in one-third of the children who have FD. Some may have to be put into special education classes because of problems with attention deficit disorder as well. During adolescence the child can develop repeated infections that can damage the lungs. The vision worsens as the child grows older too because the optic nerve begins to shrink. Kidney function problems also arise.

The mutation of the IKBKAP genes causes a disruption in how the genes control the production of the IKAP protein and how many of them are produced. However, some cells will have a normal amount while others have very little. The cells that normally have too little of the IKAP protein when FD is present are the brain cells.

FD has no known cure and no particular treatment for the disease has been discovered yet. The only treatments available are ones used to alleviate symptoms and prevent complications. Individuals can experience different symptoms at different times in their lives. The severity of symptoms is also variable. Only one half of all children born with FD lived until the age of five in the past. Now, because of recent medical advances, statistics show that one half of all children born with this disease can live until the age of forty.

Last updated on Dec 15th, 2009 and filed under Neurological Disorders. Both comments and pings are currently closed.

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