Duchenne Muscular Dystrophy (DMD): Symptoms, Diagnosis, and Care

Duchenne Muscular Dystrophy is a severe and progressive genetic muscle disorder that almost exclusively affects boys. Caused by mutations in the gene responsible for producing dystrophin (a key muscle protein), DMD leads to continuous muscle degeneration and loss of strength. It is one of the most common childhood-onset neuromuscular diseases, affecting about 1 in every 3,500–6,000 live male births worldwide.

Early Signs of Duchenne Muscular Dystrophy

Symptoms usually appear between ages 3 and 6, although delays in walking and speech can be seen earlier. Typical signs include:

• Progressive weakness in the legs and hips
• Waddling gait and frequent falls
• Enlarged calf muscles (calf hypertrophy)
• Delayed motor milestones and speech difficulties
• Learning difficulties or behavioral issues (e.g., autism, ADHD, anxiety)
  

Disease Progression

Children with Duchenne Muscular Dystrophy typically lose the ability to walk between the ages of 6 and 13. Muscle weakness then spreads to the arms, shoulders, and respiratory muscles. Without treatment, most patients face severe mobility loss, scoliosis, and breathing difficulties. Cardiomyopathy (heart muscle disease) is also common and life-threatening.

Life Expectancy 

With modern care, boys and young men with Duchenne Muscular Dystrophy often live into their late 20s or 30s. They require multidisciplinary care, including support from neurologists, cardiologists, pulmonologists, orthopedic specialists, and rehabilitation therapists.

Diagnosis of Duchenne 

DMD is usually diagnosed through a combination of:

• Blood tests (high creatine kinase levels)
• Genetic testing (confirming dystrophin gene mutation)
• Muscle biopsy (less common today due to advances in genetic testing)

Treatment

There is currently no cure for Duchenne Muscular Dystrophy (DMD). Treatments focus on slowing disease progression, managing symptoms, and improving quality of life.

The information is for educational purposes only. No patient should start, stop, or change treatment without guidance from a qualified healthcare professional.

The doctor might prescribe:

• Corticosteroids (e.g., deflazacort, prednisone) to help delay muscle weakness

• Heart care with ACE inhibitors and beta-blockers to prevent cardiomyopathy

• Ataluren for about 10% of patients with a specific nonsense mutation, which may help maintain mobility

• Rehabilitation and physiotherapy to preserve movement and reduce contractures

• Multidisciplinary care to address breathing, nutrition, orthopedic issues, and psychological support

Research continues into gene therapy and new medications, offering hope for future treatment options.

What to Do in Case of Suspect

If you notice early signs of Duchenne Muscular Dystrophy in a child, such as delayed walking, frequent falls, or muscle weakness, it is important to seek medical evaluation promptly. 

Early diagnosis allows for timely interventions that can slow disease progression and improve quality of life. 

Saventic Care can help by providing risk assessment and guidance, connecting you with medical specialists, and supporting families through the diagnostic journey. You can start by submitting a free assessment, which will help identify whether further testing or referral to a neuromuscular specialist is needed.