World Duchenne Muscular Dystrophy Awareness Day, which aims to sensitize society and mainly health professionals to make an early diagnosis, was commemorated yesterday.
Duchenne Muscular Dystrophy (DMD) is characterized by severe and progressive weakness of all the muscles of the body, it starts in early childhood and affects 1 in every 3,800 to 6,300 males born alive; it is an inherited disease, in which men suffer from it and women are carriers without symptoms; however, they transmit it to their offspring (recessive X-linked inheritance).
It is caused by various changes (mutations) in the dystrophin gene (DMD) that result in a lack of the protein of the same name (dystrophin), which is essential for muscle stability; its absence triggers severe muscle impairment and degeneration that is often complicated by disability, dependence and premature death.
Muscle weakness is accentuated until the use of a wheelchair becomes necessary before adolescence, and respiratory, orthopedic, and cardiac complications arise simultaneously.
Symptoms of Muscular Dystrophy vary according to age
First three years: language delay, difficulty walking and often walking on tiptoes, suffering frequent falls, having trouble climbing stairs and getting up from the floor. Calves have a developed muscular appearance (pseudohypertrophy).
From 4 to 8 years of age: slow growth, loss of muscle strength, joint contractures, reduced physical activity, and first symptoms of scoliosis.
From 12 to 14 years of age: wheelchair use, respiratory and cardiac complications.
Currently, there is no cure, but its treatment is based on symptomatic measures, which have favorably modified the course of the disease, therefore, the diagnosis should be as early as possible. Lack of awareness or knowledge delays the confirmation of the diagnosis by about 2 years.
Patient care should be provided by a multidisciplinary team that includes the administration of anti-inflammatory drugs, adequate monitoring of cardiac and pulmonary symptoms, psychological, nutritional, and physiotherapeutic support, as well as occupational therapy. Genetic counseling is of utmost importance for the patient and family, as it allows for planning for future pregnancies.
It is imperative to promote scientific research, and raise awareness in society about this disease and the needs of patients, scientists and civil initiatives such as the Western Muscular Dystrophy Association are working on this.
Duchenne awareness date is September 7 (month 9 of the year) because the gene has 79 exons (regions that form the dystrophin protein).
In Guadalajara, there is a rock band called "Big Boys" composed of 5 patients of the Western Muscular Dystrophy Association.
The red balloons represent the awareness of Duchenne Muscular Dystrophy.
By Dr. Anna Gabriela Castro Martínez and Dr. Clara Ibet Juárez Vázquez, research professors at the Autonomous University of Guadalajara (UAG).