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 transmitted genes suffer from some type of mutation which may be inappropriate or even clearly harmful, and some type of genetic disorder may develop.
Although some of these disorders usually occur with some prevalence, in many cases we can find rare and very rare alterations about which there is very little scientific knowledge, little studied due to their low prevalence. One of these disorders is called Riley-Day syndrome, or familial dysautonomia., A strange neurological syndrome that we will talk about throughout this article.
Riley-Day Syndrome: An Overview
It is called Riley-Day syndrome a strange disease of genetic origin, very unusual and which can be classified as peripheral autonomic neuropathy.
Also called familial dysautonomia or hereditary sensory neuropathy type 3, it is a condition that appears congenital and generates involvement in a large number of autonomic and sensory systems, gradually causing failures in several systems of the body. involvement of the nervous pathways of the autonomic or peripheral nervous system.
It is a chronic disease which generates a progressive affectation. The prognosis for this disease is not positive, until recently most of those affected die in childhood or adolescence. However, advances in medicine have made it possible for around half of those affected to be over the age of thirty or even in their forties.
The symptoms of Riley-Day syndrome are manifold and of great importance. Among some of the most relevant we can find the presence of heart problems, respiratory and lung problems, including pneumonia due to aspiration of the contents of the digestive tract, an inability to manage body temperature (they may suffer from hypothermia or hyperthermia). And problems in the digestive tract in which there are problems with bowel motility, digestion, reflux and frequent vomiting.
Muscle hypotonia is also relevant from birthAs well as sleep apnea, lack of oxygen, fever, hypertension and even seizures.
There is also a generalized delay in development, especially in stages such as speaking or gait. The tongue is also much softer than usual and has few spindle-shaped papillae, which is also linked to the difficulty in perceiving the taste.
One of the most common symptoms is probably the fact that these people often have a very reduced perception of pain. Far from being a positive thing, it represents a great danger to the lives of those who suffer from it as they are often unaware that they are suffering from serious injuries, injuries and burns. as well they usually have problems or altered perception of temperature or vibrations.
Lack of tear production is also observed in childhood crying, a condition known as alacrimia.
It is common that at the morphological level characteristic physiological features eventually appear, such as a flattening of the upper lip, a decrease in the nostrils and a rather prominent lower jaw. as well it is common for scoliosis to appear on the spine, In addition, the victim maintains a low height. Finally, it is common for the bones and muscles of these people to be weaker than those of the majority of the population.
Causes of this alteration
Riley-Day syndrome is, as we have said, a disease of genetic origin. More precisely, 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 the disorder which, in order to inherit, will require the subject to inherit two mutated copies of the gene in question, with the same mutation from both parents. This does not mean that the parents have the disorder, but that they carry the gene in question.
Riley-Day syndrome mainly occurs between descendants of people with the disorder and people of Eastern European Jewish descentIt is advisable to belong to one of these groups for genetic counseling to verify the existence of the mutated gene in order to assess the likelihood of the offspring suffering from the disease.
Riley-Day syndrome is a disease of genetic origin that has no cure, being a chronic disease. however, symptomatic treatment can be done in order to decrease the condition generated by the disease, improve the quality of life and significantly increase the life expectancy of these people.
More specifically, anticonvulsant drugs will be used pharmacologically to prevent the onset of epileptic seizures, as well as antihypertensive drugs in cases where this is necessary. On the other hand, if there is hypotension, it is necessary to teach dietary and health guidelines to raise it. 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 by the lungs or draining excess mucus or fluids. You may also need to have surgery to correct spinal, respiratory, or stomach problems.
In addition to all of the above, it is important to prevent injuries, to condition the environment. Physiotherapy is essential for improving muscle tone, especially in the torso and abdomen to aid breathing and digestion. as well it is recommended that the admission be carried out in a vertical position.
The affected person and their family may also need psychological therapy to resolve issues such as conflicts resulting from behavioral issues, depression, anxiety, and irritability. Psychoeducation is also necessary both to understand the situation and to suggest courses of action. Finally, it may be useful to turn to support groups or associations of affected people and / or their relatives.
- Axelrod, FB (2004). Family dysautonomia. Muscular Nerves, 29 (3): 352-63.
- MedlinePlus (sf). Family discrimination. [Online]. Available at: https://medlineplus.gov/spanish/ency/article/001387.htm.
- Sarnat, HB (2016). Autonomous neuropathies. A: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Handbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier.