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Duchenne muscular dystrophy: what it is, causes and symptoms

Duchenne muscular dystrophy: what it is, causes and symptoms

August 13, 2022

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 frequent of this group of disorders.

In this article we will describe what Duchenne muscular dystrophy consists of, what causes cause it, what are its most characteristic symptoms and in what ways they can be treated and alleviated from a multidisciplinary perspective.

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What is Duchenne muscular dystrophy?

Pseudohypertrophic or Duchenne muscular dystrophy is a degenerative disease of the muscles. As the affectation 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 the microscopic level and described the clinical picture in 1861.

Duchenne's disease is the most common type of childhood muscular dystrophy , affecting 1 of every 3600 male children, while it is uncommon in women. There are nine types of muscular dystrophy, an alteration that weakens the muscles and gradually stiffens them.

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. Normally death occurs as a result of breathing difficulties.


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Signs and symptoms

The symptoms appear in early childhood, between 3 and 5 years approximately. Initially children with this disease they have more and more difficulties to stand up and to walk due to the involvement of the thighs and the pelvis. To stand up, it is common that they have to use their hands to keep their legs straight and raise.

The pseudohypertrophy Duchenne dystrophy characteristic occurs in the muscles of the calves and thighs, which are enlarged at the time when the child begins to walk due, basically, to the accumulation of fats. This milestone of development usually occurs late in the cases of Duchenne.

Later weakness will generalize to the muscles of the arms, neck, trunk and other parts of the body, causing contractures, imbalance, changes in gait and frequent falls. Progressive muscle deterioration causes children diagnosed towards the beginning of puberty lose the ability to walk and be forced to use a wheelchair .


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

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Causes of this disease

Duchenne muscular dystrophy is caused by a mutation in the gene that regulates dystrophin transcription , a fundamental protein for the maintenance of the structure of muscle cells. When the body can not synthesize dystrophin properly, muscle tissues deteriorate progressively until they die.

The wear of the muscles occurs as a consequence of the intensification of oxidative stress reactions, which damages the muscular membrane until it causes the death or necrosis of its cells. Subsequently the necrotic muscle is replaced by adipose and connective tissue.

This sickness is more common in males because the gene that causes it is located on the X chromosome ; unlike women, men have only 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 mutations "de novo", usually the genetic alterations of Duchenne muscular dystrophy they are transmitted from mothers to children . Males that carry the defective gene have 50% of developing the disease, while it is rare that it occurs in girls and when this happens the symptoms are usually milder.

Treatment and intervention

Even though no treatments have been found that cure Duchenne muscular dystrophy , multidisciplinary interventions can be very effective to delay and reduce symptoms and to increase 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 the consumption of these drugs prolongs the ability to walk between 2 and 5 more years.

Regular practice of physical therapy and gentle exercise (such as swimming) can limit the deterioration of muscles, since inactivity enhances their involvement. 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 the diagnosed persons visit with a certain frequency cardiologists and pulmonologists. The use of beta-blocking drugs and devices for assisted breathing It may be necessary in many cases.


Duchenne Muscular Dystrophy: Ryan's Story (August 2022).


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