Duchenne muscular dystrophy: what it is, causes and symptoms

We speak of muscular dystrophy to designate a set of diseases that cause the progressive deterioration of the muscles, causing them to become weak and stiff. Duchenne muscular dystrophy is one of the most common of this group of disorders.

In this article, we will describe what Duchenne muscular dystrophy is, what causes it, what are its most characteristic symptoms and how they can be treated and mitigated from a multidisciplinary perspective.

    What is Duchenne muscular dystrophy?

    Pseudohypertrophic or Duchenne muscular dystrophy is a degenerative disease muscles. As the disease progresses, muscle tissue weakens and its function is lost until the person becomes totally dependent on their caregivers.

    This disorder was described by the Italian doctors Giovanni Semmola and Gaetano Conte in the first half of the 19th century. However, its name comes from the French neurologist Guillaume Duchenne, who examined the affected tissue at the microscopic level and described the clinical picture in 1861.

    Duchenne’s disease it is the most common type of childhood muscular dystrophy, Affecting 1 in 3,600 male children, while it is rare in women. There are nine types of muscular dystrophy, a condition that weakens muscles and gradually makes them stiff.

    The life expectancy of people with this disorder is around 26 years, although advances in medicine allow some of them to live over 50 years. Death usually occurs as a result of difficulty breathing.

      Signs and symptoms

      Symptoms appear in early childhood, between 3 and 5 years old. Initially, children with this disease they have more and more difficulty getting up and walking due to the involvement of the thighs and pelvis. To lift, it is common for them to have to use their hands to keep their legs stretched out and stand up.

      Pseudohypertrophy Characteristic of Duchenne’s dystrophy occurs in the muscles of the legs and thighs, which increase in size as the child begins to walk due, primarily, to the accumulation of fat. This stage of development usually occurs late in Duchenne’s cases.

      Later, the weakness will spread to the muscles of the arms, neck, torso and other parts of the body, causing contractures, imbalances, difficulty in walking and frequent falls. Progressive muscle deterioration leads to the onset of puberty in diagnosed children they lose the ability to walk and are forced to use a wheelchair.

      Lung and heart problems are common as secondary signs of muscular dystrophy. Respiratory dysfunction makes coughing difficult and increases the risk of getting infections, while cardiomyopathy can lead to heart failure. Sometimes scoliosis (abnormal curvature of the spine) and intellectual disability also appear.

        The causes of this disease

        Duchenne muscular dystrophy is caused by a mutation in the gene that regulates dystrophin transcription, A protein essential for maintaining the structure of muscle cells. When the body fails to properly synthesize dystrophin, muscle tissue gradually deteriorates until it dies.

        Muscle wear and tear occurs as a result of the intensification of oxidative stress reactions, which damage the muscle membrane to the point of causing the death or necrosis of its cells. Subsequently, the necrotic muscle is replaced by adipose and connective tissue.

        this disease it is more common in men because the gene that causes it is located on the X chromosome; Unlike women, men only have one of these chromosomes, so their defects are less likely to be corrected spontaneously. Something similar happens with some forms of color blindness and hemophilia.

        Although 35% of cases are due to “de novo” mutations, usually genetic alterations in Duchenne muscular dystrophy they are passed on from mothers to children. Men who carry the defective gene have a 50% chance of developing the disease, while it is rare for this to happen in girls and when it does, the symptoms are usually milder.

        Treatment and intervention

        Again no treatment has been found to cure Duchenne muscular dystrophyMultidisciplinary interventions can be very effective in delaying and reducing symptoms and in increasing the quality and life expectancy of patients.

        Among the pharmacological treatments for this disease highlights the use of corticosteroids such as prednisone. Some studies suggest that taking these drugs prolongs the ability to walk for another 2 to 5 years.

        Regular practice of physiotherapy and gentle exercises (Like swimming) can limit muscle damage, as inactivity potentiates its affectation. Likewise, the use of orthopedic instruments such as supports and wheelchairs increases the level of autonomy of patients.

        Due to the association of Duchenne’s dystrophy with heart and respiratory problems, it is important for those diagnosed to see cardiologists and pulmonologists with some frequency. Use of beta-blocker drugs and assisted breathing devices this may be necessary in many cases.

        Leave a Comment