Riley-Day Syndrome: Symptoms, Causes And Treatment
The color of our eyes and our skin, the shape of our nose, our height, the physiognomy of our face, part of our intelligence and part of our character are aspects largely inherited and derived from the expression of our genes. However, sometimes the transmitted genes suffer some type of mutation that can be maladaptive or even clearly harmful, and some type of genetic disorder may appear.
Although some of these disorders usually occur with a certain prevalence, in many other cases we can find rare and very infrequent alterations about which there is very little scientific knowledge, being little investigated due to their low prevalence. One of these disorders is called Riley-Day syndrome, or familial dysautonomia a strange neurological syndrome that we are going to talk about throughout this article.
A strange disease of genetic origin, very unusual and that can be classified as peripheral autonomic neuropathy
Also called familial dysautonomia or type 3 hereditary sensory neuropathy, it is a condition that appears congenitally and affects a large number of autonomic and sensory systems, progressively causing failures in multiple systems of the body which are derived from of the involvement of the nerve pathways of the autonomic or peripheral nervous system
It is a chronic condition that generates progressive affection. The prognosis of this disease is not positive, with most of those affected dying until recently during childhood or adolescence. However, medical advances have allowed around half of those affected to exceed thirty years of age or even reach forty.
The symptoms of Riley-Day syndrome are multiple and of great importance. Among some of the most relevant we can find the presence of cardiac disorders, respiratory and lung problems, among which pneumonia due to aspiration of the contents of the digestive tract, inability to manage body temperature (may suffer hypothermia or hyperthermia) and problems in the digestive tract. digestive in which there are problems with intestinal motility, digestion, reflux and frequent vomiting.
Muscle hypotonia is also relevant from birth as well as sleep apnea, lack of oxygen, fever, hypertension and even seizures.
There is also a generalized delay in development, especially in milestones such as language or walking. The tongue is also much smoother than usual and they have few fusiform taste buds, something that is also linked to the difficulty in perceiving flavor.
Probably one of the symptoms that most often attracts attention is the fact that these people usually have a greatly reduced perception of pain. Far from being something positive, it represents a great danger to the lives of those who suffer it since they are often not aware of suffering wounds, injuries and burns of great importance. Also They usually have problems or alterations in the perception of temperature or vibration
The absence of tear production is also observed when crying since childhood, a condition known as alacrimia.
It is common for characteristic physiological features to appear at a morphological level, such as a flattened upper lip, a narrowing of the nostrils and a fairly prominent lower jaw. Also It is common for scoliosis to appear in the spine, as well as the person who suffers from it maintaining a short stature. Finally, these people’s bones and muscles are often weaker than those of the majority of the population.
Riley-Day syndrome is, as we have said, a disease of genetic origin. Specifically, it has been identified the existence of mutations in the IKBKAP gene located on chromosome 9 which is acquired by autosomal recessive inheritance.
This means that the disorder that in order to be inherited will require the subject to inherit two mutated copies of the gene in question, with both parents having the same mutation. This does not mean that the parents have the disorder, but it does mean that they are carriers of the gene in question.
Riley-Day syndrome occurs mostly among descendants of people with the disorder and people of Jewish descent from Eastern Europe it is advisable if you belong to one of these groups to undergo genetic counseling to verify the existence of the mutated gene in order to assess the probability that your offspring may suffer from the disorder.
Treatment
Riley-Day syndrome is a condition of genetic origin that does not have a curative treatment, being a chronic disease. However, symptomatic treatment can be carried out in order to reduce the condition generated by the disease, improve the quality of life and greatly increase the life expectancy of these people.
Specifically, anticonvulsant drugs will be used at a pharmacological level in order to prevent the appearance of epileptic seizures, as well as antihypertensive drugs in cases where necessary. On the other hand, if there is hypotension, dietary and health guidelines must be taught to raise it again. Vomiting, a common symptom, can be controlled with antiemetic drugs.
Different lung problems may require different types of treatment, such as removing stomach contents aspirated into the lungs or drain excess mucus or fluid Surgery may also be required to correct spinal, respiratory or gastric problems.
In addition to all of the above, it is important to prevent injuries by conditioning the environment. Physiotherapy is essential in order to improve muscle tone, especially in the torso and abdomen in order to promote breathing and digestion. Also it is recommended that the intake be carried out in an upright position
The affected person and their family may also require psychological therapy to solve problems such as conflicts derived from behavioral problems, depression, anxiety and irritability. Psychoeducation is also necessary both to understand the situation and to offer guidelines for action. Finally, it may be useful to resort to mutual aid groups or associations of affected people and/or relatives.
