Myotonic dystrophy: symptoms, diagnosis and treatment

Myotonic dystrophy: symptoms, diagnosis and treatment

The disease can occur in adulthood or in perinatal age; in the latter case, it is called congenital and has a much more severe course.

The devices more or less involved are the central nervous system, the cardiovascular system, the endocrine system, the sight, the muscles and, of course, the respiratory system.

Myotonic dystrophy is an autosomal dominant inherited disease

This means that it is not sex dependent and has a 50% risk of recurrence per pregnancy.

The cause is the abnormal expansion of the three bases (triplet) of a gene located on chromosome 19, the DMPK gene.

The greater the expansion of the triplet, the more severe the disease and the earlier its onset.

In addition, it must be said that, according to the so-called phenomenon of anticipation, the expansion increases from generation to generation, and the severity of symptoms and precocity also increase proportionally.

The congenital form, the most severe, is transmitted exclusively by the mother.

Symptoms of Myotonic Dystrophy

Typical signs of myotonic dystrophy are even daytime respiratory failure, persistent arrhythmias, early onset of cataracts, early onset of baldness, impaired thyroid function and sometimes even testicular function, hypersomnia marked during the day, signs of scoliosis.

In cases of the congenital form, infants may also have difficulty swallowing and suckling, sometimes requiring effective resuscitation maneuvers.

Over time, however, if the infant manages to survive, these symptoms tend to subside, while the cognitive deficit persists, even severely.

Symptoms may also not all present at the same time or with the same intensity, so different clinical pictures are created depending on the combination of signs and symptoms and the intensity of each.

In some circumstances, the signs can be so mild that they may even go unnoticed for a long time.

The congenital form is, in all cases, the one with the most severe prognosis.

Diagnosis and treatment

The diagnosis is made by means of an objective examination.

The physical appearance of affected patients and the simple evidence of the absence of muscle relaxation after voluntary contraction allow an immediate diagnosis to be established, which must then be confirmed by other examinations, such as electromyography and genetic tests.

A muscle biopsy is unnecessary.

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Genetic testing is also recommended for family members in whom cases of myotonic dystrophy have occurred to determine if and how many of them are susceptible to the disease.

Prenatal diagnosis is also possible, in the event that one of the parents has the disease, with amniocentesis or chorionic villus sampling and analysis of the presence of triplets in the tissues.

These examinations make it possible to predict whether or not the child will have myotonic dystrophy, but cannot give certainty as to the severity and the time of its appearance, since the extent of the expansion, on which the time of the appearance and severity of the disease, is different depending on the tissues analyzed.

Unfortunately, there are no therapies that can cure myotonic dystrophy, but there are treatments that can combat its symptoms.

Each system of the body or district concerned will have to be treated to stem the damage (respiratory, cardiological, endocrinological, etc. separate treatments).

With regard, however, more strictly to myotonia, quinine seems to have a good effect.

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