Can myotonic dystrophy be cured

Type 1 myotonic dystrophy

There are a variety of different muscle diseases, all of which have different causes and symptoms. At Type 1 myotonic dystrophy it is an inherited muscle disorder that manifests itself in particular as muscle weakness and clouding of the lens. Due to its inheritance, the disease cannot be prevented and, moreover, cannot be cured.

What is myotonic dystrophy type 1?

Myotonic dystrophy type 1 is an autosomal dominant inherited multisystem disease and is also known as Curschmann-Steinert syndrome. There are basically two different variants of the disease. On the one hand there is the so-called congenital disease, also known as the congenital form. This occurs at birth and shows muscle weakness in the newborn.

The second variant appears as an adult form only from the age of 20 and 40. Both forms are incurable and, depending on their severity, can reduce life expectancy. With the congenital form, a life expectancy of 30 to 40 years can be expected, with 25 to 50 percent of children dying in the first 18 months. Diseases occurring in adulthood suggest a life expectancy of only 50 to 60 years.

causes

As already mentioned, the causes of myotonic dystrophy type 1 lie in an inherited genetic defect. It is a trinucleotide repeat disease. The affected trinucleotide is located in the genetic code of chromosome 19 and consists of the bases cytosine, thymine and guanine. While this combination of the three bases is repeated a maximum of 35 times in healthy people, up to 200 repetitions can be determined in the case of a minor disease and even 1,000 repetitions in the case of a strong form.

Symptoms and course

Typical symptoms of myotonic dystrophy type 1:

This has a negative impact on the synthesis and functionality of other proteins. The production of the enzyme dystrophia myotonica protein kinase, which is important for the heart and skeletal muscles, is extremely inhibited. The other proteins affected include the SIX5, which is important for the lens, and the no less important insulin receptor. This diversity also explains why myotonic dystrophy type 1 occurs in a wide variety of organs.

The trinucleotide repeats responsible for the disease multiply during inheritance from one generation to the next, which means that the symptoms appear earlier and in a more pronounced form. The adult variant is the most common form of muscular dystrophy that only appears in adults. The congenital form is always caused by heredity from the mother and affects sons more often than daughters.

diagnosis

The main manifestation of the disease is muscle weakness, which in most cases occurs in the legs. Often, however, this muscle weakness spreads further, which has serious consequences. Impaired heart muscles can lead to cardiac arrhythmias and in the worst case can end in cardiac arrest. Problems in the core muscles can quickly turn into problems with breathing or lung diseases.

If the muscles of the face, neck or throat are affected, this can also lead to problems with swallowing and speaking. The muscular problems often also affect the relaxation of the muscles. This makes it harder or takes longer for tense muscles to loosen up again, such as a hand that makes it difficult to let go of things that have been gripped.

It is not uncommon for patients to suffer from problems with their eyes, such as clouding of the lens or cataracts. Not to be overlooked are the risks of low testosterone levels in adults and an increased risk of developing diabetes mellitus. In addition, the symptoms of inner ear hearing loss and a great need for sleep appear. Disorders of the hormonal balance also lead to symptoms such as testicular atrophy or baldness in men and menstrual disorders in women.

Treatment and therapy

If the described symptoms occur or other phenomena or abnormalities raise the suspicion of myotonic dystrophy type 1, this should be immediately confirmed by a diagnosis or eliminated. Molecular genetic variants are used to identify whether it is really myotonic dystrophy type 1 or other diseases with similar symptoms, such as type 2 myotonic dystrophy.

Because this genetic defect also manifests itself in spontaneous activity in the muscles away from the trunk, electromyographic tests can help diagnose the disease. Due to the fact that it is hereditary, a detailed family history helps to make provision for possible future occurrences, even if it is not possible to prevent heredity or the onset of the disease.

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prevention

As already mentioned, the treatment and therapy cannot lead to a cure. However, it is entirely possible to reduce the intensity of the symptoms so that life becomes more bearable. There are numerous medications for muscle weakness, and drug treatment is extremely helpful and important, especially to contain cardiac arrhythmias.

Breathing problems can be reduced with technical aids and surgical interventions, for example, can keep cataracts or lens opacities within limits. Targeted physiotherapy can prevent the disease from progressing too quickly. Myotonic dystrophy type 1 is a genetic defect and therefore an inherited disease. Because of this, it is not possible to prevent this disease.

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This article has been written using the latest medical literature and sound scientific sources.
Quality assurance by: Dr. med. Nunmaker
Last update on: December 15, 2018
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