Riley-Day syndrome: symptoms, causes and treatment

A neuropathy of genetic causes that generates severe symptoms of many types.

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 the transmitted genes undergo some kind of mutation that may be maladaptive or even clearly harmful, and some kind of genetic disorder may appear.

Although some of these disorders tend to 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 rare neurological syndrome that we will discuss in this article.a rare neurological syndrome that we are going to talk about in this article.

The Riley-Day syndrome: general description

It receives the name of syndrome of Riley-Day a strange disease of genetic origin, very rare and that can be classified as neuropathy. can be classified as peripheral autonomic neuropathy..

Also called familial dysautonomia or hereditary sensory neuropathy type 3, it is a condition that appears congenitally and generates affectation in a large number of autonomic and sensory systems, causing progressive failures in multiple systems of the body which result from the affectation of the nervous pathways of the autonomic or peripheral nervous system..

It is a chronic condition that generates a progressive affectation. The prognosis of this disease is not positive, and until recently most of those affected died during childhood or adolescence. However, medical advances have made it possible for about half of those affected to live beyond the age of thirty or even into their forties.

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 pneumonia by aspiration of the contents of the digestive tract, inability to manage body temperature (being able to suffer 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 sleep apneas, lack of oxygen, fever, hypertension and even seizures.as well as sleep apneas, oxygen deprivation, fever, hypertension and even seizures.

A generalized developmental delay is also observed, especially in milestones such as language or gait. The tongue is also much smoother than usual and has few spindle-shaped taste buds, which is also linked to difficulty in taste perception.

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

It is also observed the absence of tear production in crying since infancy, 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 rather prominent lower jaw. Also It is also common for scoliosis to appear in the spine, as well as for the sufferer toIt is also common for scoliosis to appear in the spine, as well as for the sufferer to maintain a short stature. Finally, it is frequent that the bones and muscles of these people are 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. Specifically, it has been identified the existence of mutations in the IKBKAP gene located on chromosome 9, which is acquired by genetic defect.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 occurs mostly among offspring of people with the disorder. among descendants of people with the disorder and people of Jewish descent from Eastern Europe.If you belong to one of these groups, it is advisable to undergo genetic counseling to check for the existence of the mutated gene in order to assess the likelihood that your offspring may develop the disorder.

Treatment

Riley-Day syndrome is a condition of genetic origin that has no curative treatment, being a chronic disease. However, it is a chronic disease, a symptomatological treatment can be carried out. The aim is to reduce the affection generated by the disease, improve the quality of life and greatly increase the life expectancy of these people.

Specifically, Anticonvulsant drugs will be used pharmacologically in order to avoid the appearance of epileptic seizures, as well as antihypertensive drugs when necessary. On the other hand, if there is hypotension, dietary and health guidelines should be taught to bring it back up. Vomiting, a frequent symptom, can be controlled with antiemetic drugs.

Different lung problems may require different types of treatment, for example to remove stomach contents aspirated by the lungs or to drain excess mucus from the lungs. drain excess mucus or fluids from the lungs.. 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 to promote breathing and digestion. Also it is recommended that the ingestion is carried out in an upright position..

The affected person and his 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 help groups or associations of affected and/or family members.

Bibliographical references:

• Axelrod, F.B. (2004). Familial dysautonomia. Muscle Nerve, 29 (3): 352-63.
• MedlinePlus (n.d.). Familial 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.