On September 7, World Awareness Day for Duchenne Muscular Dystrophy was celebrated, a rare, degenerative disease with no cure, which affects approximately 1 in every 5,000 children and of which around 20,000 new cases are diagnosed. per year around the world. Duchenne Muscular Dystrophy is a serious neuromuscular genetic disease characterized by progressive muscle weakness and degeneration. It is caused by mutations in the DMD gene that cause the absence of the functional protein dystrophin, which plays a crucial role in the proper functioning of muscles.
As explained by Dr. Carlos Ignacio Ortez González, neuropediatrician at the Neuromuscular Pathology Unit of the Neurology Service of the Sant Joan de Déu Hospital in Barcelona, “the first signs of weakness in Duchenne Muscular Dystrophy generally begin to manifest in early childhood. , between 2 and 3 years old. Some of the most common early signs are frequent falls, difficulty climbing stairs, as well as running and jumping, and an increase in diameter or size of some muscles, mainly the calves.”
Given that the protein that is absent or decreased in Duchenne Muscular Dystrophy is also expressed in the brain, sometimes the neurodevelopmental warning signs precede the muscular ones, which is why Dr. Ortez González advises “in the event of any warning sign of neurodevelopment (motor delay, language delay, ASD warning signs,…) it is necessary to request blood levels of creatine phosphokinase (CPK), and if these are elevated, the Duchenne Muscular Dystrophy diagnostic protocol must be activated. ”
The first signs of weakness in Duchenne Muscular Dystrophy usually begin to appear in early childhood, between 2 and 3 years of age. Early detection can improve the patient’s prognosis and quality of life.”
The disease only occurs in male children because it only affects the X chromosome; 2 in 3 cases are caused by a hereditary mutation and 1 in 3 by a spontaneous mutation. Women can be carriers of the gene, they usually do not have symptoms, but they have a 25% chance of having a male child with Duchenne disease.
Life expectancy is around 30 years, but at 12 most patients need a wheelchair, as the symptoms worsen over time and they gradually lose the ability to walk. Over time, the heart and respiratory muscles are also affected, causing premature death.
The date chosen to celebrate the world day is due to the fact that the gene that causes this disease contains 79 exons (region of the genome), which is why 9/7 has been established for World Muscular Dystrophy Awareness Day. Duchenne.
Duchenne awareness and visibility on social networks
The Duchenne Parent Project Spain association, with the support of Grupo Italfarmaco, has created a campaign to carry out on Instagram in order to raise awareness and make the disease visible. It is an interactive filter with which you can visually see how the muscles are affected with the progression of the disease.
For Silvia Ávila Ramírez, president of Duchenne Parent Project Spain, “campaigns are fundamental for us. If there is no good dissemination channel, if the disease is not known, how are we going to convince so that research does not stop? An awareness campaign is the starting point for understanding the disease, its symptoms and its devastating consequences. This will make society aware of the children and young people affected, and support us with our goals and objectives.”
As Verónica Somodevilla, Institutional Relations Manager of Grupo Italfarmaco, explains, “in our company we have a strong commitment to rare diseases and we believe it is important to support this campaign. We want to raise awareness about Duchenne Muscular Dystrophy, so that at the slightest warning sign “Parents go to their pediatrician and get an early diagnosis.”
Early detection is of utmost importance in this pathology, since, as indicated by Dr. Carlos Ignacio Ortez González, pediatric neurologist at the Neuromuscular Pathology Unit of the Neurology Service of the Sant Joan de Déu Hospital in Barcelona, “it can improve the prognosis and the patient’s quality of life; “Early symptomatic treatment can be started with the aim of slowing down the progression of muscle weakness, and in this way patients will maintain greater independence and comprehensive functionality over time.” “In addition,” he continues, “it facilitates the possibility of timely access to specialized therapies and care in the early stages of the disease. “Early detection is also essential to offer genetic counseling to the family and at the same time the early detection of female carriers.”
In this Duchenne Parent Project Spain initiative, in addition to Grupo Italfarmaco Spain, Italfarmaco Portugal and Italfarmaco Italia collaborate, they wanted to take advantage of World Duchenne Muscular Dystrophy Awareness Day to achieve the greatest number of impacts possible on a digital level; Filters encourage interaction with the audience and thus increase the ability to go viral to reach the largest number of people possible.
Duchenne Muscular Dystrophy in Spain
In Spain there are about 1,000 diagnosed cases. The Duchenne Parent Project Spain association is of great support for patients; It is a non-profit entity created by mothers and fathers of children with Duchenne and Becker Muscular Dystrophy, which works to improve the quality of life of those affected and their families with good care, both physical and emotional, as well as create campaigns for education, awareness and sensitization of the general population.
In Spain there is not enough awareness about Duchenne Muscular Dystrophy, “there is still a way to go,” says Silvia Ávila Ramírez, “it is one of the most commonly diagnosed rare diseases, and it is as cruel as any other childhood disease that limits the quality of life of children and life expectancy of young people. However, having even greater prevalence than ALS, very few sectors of society know about it.”
As explained by Dr. Carlos Ignacio Ortez González, neuro pediatrician at the Neuromuscular Pathology Unit of the Neurology Service of the Sant Joan de Déu Hospital in Barcelona, in our country “the medical staff has sufficient knowledge to make an early diagnosis. In addition, there are second and third level medical centers specialized in the management of neuromuscular diseases, which guarantees that patients receive comprehensive treatment according to their clinical condition.”
“The environment of the person with Duchenne Muscular Dystrophy needs to know that they are not alone and that they will not be alone in the future, when the disease shows its worst face; They also need support and, above all, financial aid so that they can care for the affected person with the dignity that any patient deserves. On the part of the pharmaceutical industry, we need them to continue feeling the same or greater interest in the disease as they have until now,” concludes Silvia Ávila Ramírez, president of Duchenne Parent Project Spain.
“It is vitally important,” adds Ortez González, “to maintain continuing medical education to be aware of advances in the management of patients with Duchenne Muscular Dystrophy and to continue improving the quality of care provided to them. Constant training and updating allow professionals to be at the forefront in the diagnosis, treatment and care of patients, which can have a significant impact on their well-being and quality of life. The constant search for knowledge and collaboration between specialists are essential to continue improving patient care and prognosis.”
Source: Duchenne Spain
