Pay attention if your son is delayed in walking between the ages of 2 and 3, or shows signs of flat feet, including difficulty keeping his balance or getting up from the floor, these may be early symptoms of Duchenne Muscular Dystrophy (DMD).
Worldwide figures indicate that some 20,000 male infants are diagnosed each year with Duchenne Muscular Dystrophy (DMD), a hereditary disease that affects the health of the muscles, so mothers, fathers and doctors must be alert to possible symptoms for their early detection and treatment.
“In Panama we need to make DMD much more visible, explaining its symptoms, so that they can be recognized early and give children the opportunity for multidisciplinary treatment that improves their quality of life,” said Emma Pinzón, spokeswoman for the United Association to Support You. (AUPA), an organization dedicated to raising awareness of rare diseases.
“In some cases there is also a language delay, but the most characteristic visual sign of DMD is the boy’s chubby, muscular calf.”
This condition is related to males, with 1 case per 3,600 live births. It is characterized by a weakness of the muscles that progresses progressively and degeneratively, until it causes loss of mobility. Deterioration can lead to respiratory and heart failure in more advanced cases. Women are carriers of the mutated gene, but the symptoms are hardly noticeable.
The AUPA activated this month an awareness campaign about the disease on the occasion of World DMD Day on September 7th. In other countries, public buildings and historical monuments were illuminated in red and white as part of this campaign.
For this year’s campaign, the World Duchenne Organization chose to highlight the accompaniment that women provide in their role as mothers, doctors, nurses, scientists, caregivers and others, in the lives of patients with DMD.
The AUPA representative explained that the life expectancy of people with DMD ranges between 23 and 28 years, but medicine has achieved the development of innovative therapies, and scientific research continues to work.
The call to make the disease visible includes the different health actors, because the lack of knowledge of the pathologies of DMD is one of the causes of the delay in its diagnosis, when early detection can prevent significant muscle loss , which in the long run optimizes the results of timely treatment through interdisciplinary management.
About Duchenne Muscular Dystrophy
DMD is a genetically based disease that causes progressive weakness and loss of muscle mass. Linked to the X chromosome, it mainly affects males.
The genetic alteration causes the dystrophin protein to not be produced. In the absence of this protein, muscles become brittle and degenerate over time. The end result is weakness, which prevents patients from climbing stairs, walking, and moving their arms as the disease progresses.
In advanced stages of DMD, muscle deterioration is extensive, even affecting the respiratory muscles, which can lead to life-threatening pulmonary disorders requiring ventilatory support and cardiac complications.
