Understanding Duchenne Muscular Dystrophy: Symptoms, Diagnosis, and Treatment Options

Duchenne muscular dystrophy (DMD) is a rare genetic disorder that primarily affects boys and causes progressive muscle weakness. It is the most common type of muscular dystrophy, a group of diseases that make muscles weaker and less flexible over time. DMD is caused by a defect in the gene responsible for producing dystrophin, a protein that helps keep muscles strong and healthy.

Symptoms of Duchenne Muscular Dystrophy

The signs and symptoms of DMD usually appear before the age of 6. Some of the most common symptoms include:

• Delayed walking

• Frequent falls

• Difficulty climbing stairs or getting up from the floor

• Waddling or walking on toes

• Curved spine (scoliosis)

• Shortened, tight muscles in the legs (contractures)

• Breathing difficulties

• Learning and memory problems

Although DMD can cause muscle cramps, it is generally not painful. The disorder does not affect bladder or bowel control, and intelligence is not impacted.

Diagnosing Duchenne Muscular Dystrophy

If you notice any of the above symptoms in your child, it is essential to consult a doctor. The diagnostic process may involve:

1. A thorough medical history and physical examination

2. Blood tests to check for elevated levels of creatine kinase (CK), an enzyme released by damaged muscles

3. Genetic tests to identify changes in the dystrophin gene

4. Muscle biopsy to examine the muscle tissue for low levels of dystrophin

Treatment Options for Duchenne Muscular Dystrophy

While there is currently no cure for DMD, various treatments can help manage symptoms, protect muscles, and maintain heart and lung health. Some of the available treatment options include:

• Corticosteroids (e.g., prednisone, deflazacort) to slow muscle damage and improve heart and lung function

• Targeted therapies like eteplirsen (Exondys 51), golodirsen (Vyondys 53), and casimersen (Amondys 45) for specific gene mutations

• Physical therapy and exercise to maintain muscle flexibility and strength

• Assistive devices such as braces, standing walkers, and wheelchairs to help with mobility

• Surgery to correct shortened muscles, straighten the spine, or address heart and lung issues

In addition to medical treatments, a healthy diet and regular monitoring by a cardiologist are essential for managing DMD. Researchers are also continuously working on developing new therapies, including gene therapies, to improve the outlook for people with DMD.

Living with Duchenne Muscular Dystrophy

Despite the challenges posed by DMD, children with the disorder can still lead active and fulfilling lives. Encouraging them to stand and walk as much as possible, eat a balanced diet, and stay active through safe exercises can help maintain their quality of life. Seeking support from local support groups or online communities can also provide valuable advice and understanding for families living with DMD.

As research advances, the outlook for people with DMD continues to improve. With proper care and management, many individuals with DMD can now live well into their 30s, 40s, and even 50s, pursuing higher education, careers, and starting families of their own. To learn more about DMD and find support resources, visit organizations like CureDuchenne, the Muscular Dystrophy Association, or the Parent Project Muscular Dystrophy.