“Duchenne muscular dystrophy is the most severe and common form of muscular dystrophy in childhood. This rare disease that causes disability can manifest itself in pre-school age, at approximately three years of age, and can even occur in adolescence. Although a definitive cure has not yet been found, there is a treatment to slow down the progression of the symptoms“, says Dr. Pamela Muñoz, pediatric neurologist of our clinic, who explains how this disease manifests itself in children.

How often does Duchenne muscular dystrophy occur?

This genetic condition affects 1 in 5,000 children and, in most cases, they are boys. Girls, although they may be carriers of the gene that causes this disease, do not usually present symptoms, but any sons they may have in the future will present symptoms.

Signs of suspicion that parents may observe in their children are:

• Psychomotor retardation
• Regression of motor skills that had been achieved
• Fatigue or tiredness in the face of physical activity.
• Frequent trips and falls
• Muscle weakness in arms and legs
• Difficulty getting up, running, or climbing stairs.
• Has leg pain and often tiptoes on tiptoes

What to do if my son is diagnosed with Duchenne Muscular Dystrophy? 

• Although this disease is of genetic origin, it should be taken into account that, if not acted upon in time, the deterioration caused by the disease will develop more rapidly and could affect the respiratory and cardiac muscles. However, if controlled early and properly, the child’s quality of life can be extended for up to a decade.
• Parents should pay attention to the signs that have been described and seek specialized help. After the diagnosis, the child should rigorously attend check-ups and undergo physiotherapy, as well as receive nutritional counseling, among others.
• Parents or caregivers should ensure that the child takes all his or her medications, in addition to following each of the indications recommended by the specialists in charge of his or her treatment.
• It is also recommended to seek psychological support for both the child and the parents, who should give the child the strength he/she needs to make the difficult process of this degenerative disease more bearable.

Dr. Pamela Muñoz
Pediatric neurologist at Clínica Ricardo Palma