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Causes, Incidence and Risk Factors

The Riley-Day syndrome is an inherited type of disorderwhich is known for affecting the normal development and functioning of thenerves everywhere throughout the human body. In some cases it may also bereferred to as the familial dysautonomia or hereditary sensory and autonomicneuropathy type III. Since it is passed down through families, one must inherita copy of the defective gene in question from both parents in order for thistype of medical condition to develop. It is a peculiar fact that the Riley-Daysyndrome occurs mostly in people characterized by an Eastern European Jewishancestry. The incidence for people with such ancestry is 1 in 3,700. The maincause of this syndrome is a mutation in the IKBKAP gene which is located onchromosome 9. Generally speaking, the Riley-Day syndrome is considered as alargely rare medical condition.

Symptoms

The symptoms of this terrible medical condition are presentat birth, and as the person grows older they only get worse over time. Not all possiblesymptoms are present in each case of the Riley-Day syndrome. The list ofpossible symptoms include unusually pale tongue surface, unusually smoothtongue surface, sweating while eating, blotching of the skin, seizures,repeated pneumonia, repeated fevers, poor overall growth, unsteady walk, poorcoordination of the limbs, long episodes of vomiting, lack of tears when cryingemotionally, inability to feel changes in temperature, inability to feelpainful sensations, feeding difficulties in children, extremely dry eyes,diarrhea, decreased sense of taste, constant constipation, frequent passing outand breath holding spells. There are also certain types of complications whichcommonly occur in more than 40 percent of patients who suffer from theRiley-Day syndrome. The list of possible medical complications includesworsening of the muscle tone, drooling, severe difficulty swallowing (which ismedicinally referred to as dysphagia), nausea, vomiting, mottling of the feet,mottling of the hands, increased states of irritability, insomnia, rapid heartrate (medicinally referred to as tachycardia), high blood pressure (medicinallyreferred to as hypertension), excessive sweating of the torso, excessivesweating of the head, blotching of the torso and blotching of the head.

Signs and Tests

There are certain tests and exams which the health careprovider needs to perform in order to diagnose the syndrome properly. Aphysical exam is one of the common routines. Certain signs may be present duringthe routine physical exam and those may or may not include tiny pupils afterreceiving certain types of eye drops, severe cases of scoliosis, repeatedepisodes of high blood pressure, low muscle tone (which is medicinally referredto as hypotonia), lack of tears during the cases of emotional crying, decreaseddeep tendon reflexes, absent deep tendon reflexes and a lack of response afterreceiving a histamine injection. A healthy person usually has redness andswelling at the site of the injection as a normal response to the injection. Ifthe health care provider still suspects that the person may have the Riley-Daysyndrome, he or she usually advices certain blood tests to be performed. These testsare performed mainly to check the state of the IKBKAP gene and to check for anymutations present in it.

Management

Fortunately enough, there are a lot of different treatmentoptions and methods available to all those who suffer from the Riley-Daysyndrome. Treating the aspiration pneumonia is one of the possible solutions. Spinalfusion and related surgical interventions may also need to be used in certaincases of the Riley-Day syndrome. In any case and with every treatment option,the patient needs to be provided with sufficient amounts of fluids and the muchneeded nutrients, which are very helpful in enhancing and accelerating theprocess of treatment. The patient needs to be well protected from various typesof injuries at all times. Some cases have been associated with great progressafter including the physical therapy of the chest into the treatment plan. Asis the case with many various types of medical conditions, the Riley-Daysyndrome may call for the use of certain types of medicines. Liquid tears areoften used for the prevention of excessive dryness of the eyes. There are also certainmedications called antiemetics which are often used in patients who suffer fromthe Riley-Day syndrome in order to control and prevent vomiting. The intake ofsalt and caffeine may need to be increased in some cases. Elastic stockings maybe used for the prevention of the postural hypotension. Gastroesophageal refluxis commonly avoided by feeding the child in an upright position. If the patientsuffers from seizures, then the anticonvulsant therapy needs to be utilized aswell. Those who suffer from the Riley-Day syndrome have a 50 percent chance ofreaching 30 years of age. There are no ways of preventing this type of syndromefrom occurring.

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