Duchenne Muscular Dystrophy: What It Is, Causes And Symptoms
We speak of muscular dystrophy to refer to a set of diseases that cause the progressive deterioration of the muscles, causing them to become weak and rigid. Duchenne muscular dystrophy is one of the most common of this group of disorders.
In this article we will describe what Duchenne muscular dystrophy consists of, What causes it, what are its most characteristic symptoms and in what ways they can be treated and alleviated from a multidisciplinary perspective.
Pseudohypertrophic or Duchenne muscular dystrophy is a degenerative disease of the muscles. As the condition progresses, the 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 a microscopic level and described the clinical picture in 1861.
Duchenne disease It is the most common type of childhood muscular dystrophy affecting 1 in every 3,600 male children, while it is uncommon in females. There are nine types of muscular dystrophy, a disorder that gradually weakens the muscles and makes them stiff.
The life expectancy of people with this disorder is about 26 years, although medical advances allow some of them to live more than 50 years. Death usually occurs as a result of breathing difficulties.
Symptoms appear in early childhood, between approximately 3 and 5 years of age. Initially, children with this disease have increasing difficulty standing and walking due to involvement of the thighs and pelvis. To stand up, it is common for them to have to use their hands to keep their legs straight and lift themselves up.
Pseudohypertrophy A characteristic feature of Duchenne dystrophy occurs in the muscles of the calves and thighs, which enlarge around the time the child begins to walk due, basically, to the accumulation of fat. This developmental milestone usually occurs late in Duchenne cases.
Subsequently, the weakness will generalize to the muscles of the arms, neck, trunk and other parts of the body, causing contractures, imbalance, gait disturbances and frequent falls. Progressive muscle deterioration means that, towards the onset of puberty, children diagnosed 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 infection, while cardiomyopathy can lead to heart failure. Sometimes scoliosis (abnormal curvature of the spine) and intellectual disability also appear.
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 cannot synthesize dystrophin adequately, muscle tissues progressively deteriorate until they die.
Muscle wear occurs as a consequence of the intensification of oxidative stress reactions, which damages 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, normally the genetic alterations typical of Duchenne muscular dystrophy are passed from mothers to children. Boys who carry the defective gene have a 50% chance of developing the disease, while it is rare for girls to develop the disease and when this happens the symptoms are usually milder.
Treatment and intervention
Although No treatments have been found to cure Duchenne muscular dystrophy. multidisciplinary interventions can be very effective in delaying and reducing symptoms and in increasing the quality and life expectancy of patients.
Among the pharmacological treatments of this disease highlights the use of corticosteroids such as prednisone. Some studies suggest that taking these medications prolongs the ability to walk by another 2 to 5 years.
Regular practice of physical therapy and gentle exercise (such as swimming) can limit the deterioration of the muscles, since inactivity increases their impact. Likewise, the use of orthopedic instruments such as supports and wheelchairs increases the level of independence of patients.
Due to the association of Duchenne dystrophy with cardiac and respiratory problems, it is important that people diagnosed visit cardiologists and pulmonologists with some frequency. The use of beta-blocking drugs and assisted breathing devices may be necessary in many cases.
