Riley-day Syndrome: Symptoms, Causes And Treatment

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

Riley-Day syndrome

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 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 investigated due to their low prevalence. One of these disorders is the so-called Riley-Day syndrome, or familial dysautonomia, a strange neurological syndrome that we are going to talk about throughout this article.

Riley-Day syndrome: overview

Riley-Day syndrome is called a strange disease of genetic origin, very rare 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 that affects a large number of autonomic and sensory systems, progressively causing failures in multiple systems of the organism which are derived of 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 for this disease is not positive, with the majority of those affected dying until recently during childhood or adolescence. However, medical advances have allowed about 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 alterations, respiratory and pulmonary problems, among which pneumonia due to aspiration of the contents of the digestive tract, inability to manage body temperature (and may suffer hypothermia or hyperthermia) and tube problems. digestive system in which there are problems with 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 seizures.

There is also a generalized developmental delay, especially in milestones such as language or gait. The tongue is also much smoother than usual and they have few spindle-shaped taste buds, something that is also linked to the difficulty in perceiving the flavor.

Probably one of the symptoms that usually attracts the most attention is the fact that these people usually have a very diminished perception of pain. Far from being something positive, it is 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 relevance. They also tend to have problems or alteration in the perception of temperature or vibration.

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

It is usual that at a morphological level characteristic physiological features end up appearing, such as flattening of the upper lip, a decrease in the nostrils and a fairly prominent lower jaw. It is also common for scoliosis to appear in the spine, as well as for the sufferer to maintain a short stature. 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 have said, a disease of genetic origin. Specifically, the existence of mutations in the IKBKAP gene located on chromosome 9, which is acquired by autosomal recessive inheritance , has been identified .

This means that the disorder 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 carry the gene in question.

Riley-Day syndrome occurs mainly among descendants of people with the disorder and people of Jewish descent from Eastern Europe, and it is recommended that someone from one of these groups take a genetic counseling to verify the existence of the mutated gene in the face of assess the probability that the offspring may develop the disorder.


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 the pharmacological level in order to avoid the appearance of epileptic seizures, as well as antihypertensive drugs when necessary. On the other hand, if there is hypotension, nutritional and health guidelines should be taught 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 in order to eliminate stomach contents aspirated into the lungs or drain excess mucus or fluids. Surgery may also be required to correct vertebral, respiratory or gastric problems.

In addition to all the above, it is important to prevent injuries, 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. It is also recommended that the intake is carried out in an upright position.

The affected person and his 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 help groups or associations of affected persons and / or relatives.

Bibliographic references:

  • Axelrod, FB (2004). Familial dysautonomia. Muscle Nerve, 29 (3): 352-63.
  • MedlinePlus (nd). Family dysautonomia. [On-line]. Available at:
  • Sarnat, HB (2016). Autonomic neuropathies. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier.

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