The color of our eyes and 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 some kind of mutation that can be unadaptive or even clearly harmful, and some kind of genetic disorder can 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 researched due to their low prevalence. One of these disorders is the so-called Riley-Day syndrome, or familial dysautonomia , a strange neurological syndrome about which we will talk throughout this article.

Riley-Day Syndrome: An Overview

It is called Riley-Day syndrome, a rare genetic disease that can be classified as a peripheral autonomic neuropathy .

Also known as familial dysautonomia or hereditary sensory neuropathy type 3, this is a condition that appears congenitally and that affects a large number of autonomic and sensory systems, progressively causing failures in multiple systems of the body which are derived from the involvement of nerve pathways of the autonomic or peripheral nervous system .

It is a chronic condition that generates a progressive affectation. The prognosis for this disease is not positive, and until recently most of those affected died during childhood or adolescence. However, medical advances have allowed about half of those affected to surpass thirty years of age or even reach forty.

Symptoms

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 alterations, respiratory and pulmonary problems among which we can highlight the pneumonia by aspiration of the content of the digestive tract, inability to manage body temperature (suffering from hypothermia or hyperthermia) and problems in the digestive tract in which there are problems of intestinal motility, digestion, reflux and frequent vomiting.

Muscle hypotonia is also relevant from birth , as well as apneas during sleep, lack of oxygen, fever, hypertension and even convulsions.

There is also a general delay in development, especially in milestones such as language or walking. The tongue is also much smoother than usual and has few fusiform taste buds, which is also linked to the difficulty in perceiving taste.

Probably one of the most striking symptoms is the fact that these people often have a very diminished perception of pain. Far from being a positive thing, it is a great danger to the lives of those who suffer from it as they are often unaware of suffering from major wounds, injuries and burns. Also they often have problems or alteration in the perception of temperature or vibration .

There is also the absence of tear production in crying since childhood, a condition known as alacrimia.

It is common for characteristic physiological features to appear at the morphological level, such as flattening of the upper lip, a narrowing of the nostrils and a fairly prominent lower jaw. Also it is common for scoliosis to appear on the spine , as well as for the sufferer to maintain a low height. Finally, the bones and muscles of these people are often weaker than those of the majority of the population.

Causes of this alteration

Riley-Day syndrome is, as we 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 in order to inherit the disorder, it will be necessary for 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 that they are carriers of the gene in question.

Riley-Day syndrome is mainly produced among descendants of people with the disorder and people of Jewish descent from Eastern Europe . It is recommended that genetic counselling be carried out to check the existence of the mutated gene in order to assess the probability that the offspring may suffer from the disorder.

Treatment

Riley-Day syndrome is a condition of genetic origin that has no curative treatment, being a chronic disease. However, a symptomatic treatment can be carried out in order to decrease 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 the pharmacological level to prevent the appearance of epileptic seizures, as well as antihypertensive drugs in cases where it is necessary. On the other hand, if there is hypotension, dietary and health guidelines should be taught in order to raise it again. Vomiting, a frequent symptom, can be controlled with antiemetic drugs.

Different lung problems may require different types of treatment, such as to remove the contents of the stomach aspirated by the lungs or to drain excess mucus or fluids . Surgery may also be needed to correct spinal, respiratory, or gastric problems.

In addition to all the above, it is important to prevent injuries by conditioning the environment. Physiotherapy is essential to improve muscle tone, especially in the torso and abdomen to promote breathing and digestion. Also it is recommended that intake is carried out in an upright position .

The affected person and his/her family may also require psychological therapy to solve problems such as conflicts arising from behavioral problems, depression, anxiety and irritability. Psychoeducation is also necessary both to understand the situation and to provide guidelines for action. Finally, it may be useful to resort to mutual aid groups or associations of affected people and/or family members.

Bibliographic references:

  • Axelrod, F.B. (2004). Familial dysautonomia. Muscle Nerve, 29 (3): 352-63.
  • MedlinePlus (n.d.). Family dysautonomia. [Online]. Available at: https://medlineplus.gov/spanish/ency/article/001387.htm.
  • Sarnat, H.B. (2016). Autonomic neuropathies. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier.