The diagnosis

Duchenne muscular dystrophy (DMD) is a genetic disease that mainly affects boys and leads to a gradual deterioration of muscle function. The disease is caused by a mutation in the gene that codes for the protein dystrophin, which is necessary to maintain the structure and function of muscle cells. Below is a description of the disease, including its different stages:

Early childhood (0-5 years)

The first signs of DMD can often be detected in early childhood, but they usually become noticeable around the age of 3-5. Symptoms include delays in motor skills such as walking, running and jumping. The children may have difficulty getting up from the floor and can often be seen using the Gower's maneuver – a way of getting up using their hands to 'climb' up their own bodies.

Late childhood (6-12 years)

During this phase, muscle weakness continues to increase. The children begin to experience difficulty with activities that involve running and jumping. The muscle loss becomes more prominent, and the symptoms also begin to affect the muscles of the arms and upper body. Usually during this period, many children need aids to walk, such as wheelchairs.

Adolescent years (13-18 years)

In adolescence, the muscle weakness becomes more extensive. Most sufferers become completely dependent on a wheelchair because the leg muscles become too weak to support the body's weight. Respiratory muscles and heart muscles also begin to be affected, requiring medical monitoring and interventions to support heart and lung function.

Early adulthood (19 years and older)

During this phase, complications related to heart and lung function are common. DMD sufferers at this age can experience significant challenges with breathing, especially during sleep. Chronic heart failure is also a major risk. Treatment focuses on managing symptoms and improving quality of life through various supports, such as breathing aids and heart medications.

Handling and treatment

There is no cure for DMD, but treatments such as corticosteroids, heart medications and physical therapy can slow the progression of the disease and help manage symptoms. Gene and cell therapy are areas of research that may offer hope for future treatment options.

It is important that individualized care planning involves an interdisciplinary team of health care professionals to effectively manage the many aspects of the disease.

More information

Information from the National Board of Health and Welfare:
https://www.socialstyrelsen.se/globalassets/sharepoint-dokument/dokument-webb/sallsynta-halsotillstand/sallsynta-halsotillstand-duchennes-muskeldystrofi-infoblad.pdf

Information page Duchenne and you
https://duchenneochdu.se/