What are monogenic diseases?

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Monogenic diseases are those caused by the mutation of a single gene in the DNA sequence of the individual. These diseases affect the quality and life expectancy of the people who suffer them by giving rise to congenital anomalies, intellectual, sensory or motor disabilities, and do not have a cure treatment currently possible.

Genetic diseases have a hereditary character and are transmitted from generation to generation. Depending on the disease, the inheritance will be dominant or recessive, that is, the parents can only be carriers of the disease without actually manifesting it.

However, these carrier parents have the risk of conceiving a sick child and the only solution to avoid it will be through an in vitro fertilization (IVF) treatment with preimplantation genetic diagnosis (PGD).

Below you have an index with all the points that we will discuss in this article.

Dominant autosomal diseases

Genetic diseases of autosomal dominant inheritance are those that manifest with a single copy of the defective gene, called allele, which will have been inherited by one of the parents who will be ill too.

Therefore, the probability of transmitting an autosomal dominant disease will be 50% depending on whether the child inherits the healthy allele or the allele altered by his or her parent.

Transmission of dominant genetic disease

Next, we will talk about the most relevant autosomal dominant diseases in Spain, either due to their severity or incidence in the population.



Steinert myotonic dystrophy

Myotonic dystrophy type 1 (DM1), also called Steinert myotonic dystrophy, is the most common type of muscular dystrophy in adults.

It is mainly characterized by weakness and muscle atrophy (inability of the muscles to relax). It also affects other body systems such as the heart (arrhythmia and cardiac conduction blocks), the eyes (cataracts) and the pancreas (diabetes).

Sleep disorders and depression are also common in people with the disease.

Steinert myotonic dystrophy can manifest itself at any time during the life of the affected person, either at birth or once they reach adulthood.

You can get more information on this topic here: What is Steinert myotonic dystrophy?

Diseases linked to sex

Genetic diseases linked to sex are due to the alteration of genes located in the sex chromosomes X or Y. These mutations can also be transmitted in a dominant or recessive manner, although the most common are recessive X-linked diseases.

Next, we will comment on the most frequent ones.

Questions from users


preimplantation genetic diagnosis in Leon(Spain)

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