Doctronic

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

Alan Lucks | MD

Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on May 16th, 2023.

Key Takeaways

  • This X-linked genetic disorder affects 1 in 3,500-5,000 male births due to mutations in the dystrophin gene, which codes for a protein essential for muscle fiber stability.
  • Boys typically show symptoms between ages 2-5, including delayed walking past 18 months, inability to jump or run normally, and using their hands to "walk up" their legs when rising from the floor (Gowers' sign).
  • Muscle weakness progresses predictably—starting in the legs and pelvis, then affecting arms and respiratory muscles, with most boys requiring wheelchairs by age 12-15.
  • Daily corticosteroids like prednisone (0.75mg/kg/day) or deflazacort can extend walking ability by 2-3 years and delay respiratory decline, though they cause weight gain and bone thinning.
  • Life expectancy has improved from teens to 30s-40s with proactive respiratory support including BiPAP ventilation and cardiac monitoring, as heart muscle weakening occurs in 90% of patients.

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:

  • A thorough medical history and physical examination

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

  • Genetic tests to identify changes in the dystrophin gene

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

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

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

  • Vamorolone (Agamree) - a newer anti-inflammatory medication with potentially fewer side effects than traditional steroids

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

  • Elevidys (delandistrogene moxeparvovec) - a gene therapy for patients with confirmed mutations amenable to exon 51 skipping

  • Duvyzat (givinostat) - an HDAC inhibitor that helps preserve muscle function

  • 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.

The Bottom Line

Early recognition and treatment with steroids plus multidisciplinary care can significantly slow progression and extend both mobility and lifespan. Genetic counseling is crucial since carrier mothers have a 50% chance of passing the condition to each son. If you notice delayed motor milestones or muscle weakness in your child, Doctronic can help you understand next steps and connect with appropriate specialists.

Related Articles

Does Mounjaro Affect Fertility?

Understanding Mounjaro and Its UsesMounjaro is a prescription medication commonly prescribed for managing type 2 diabetes. It belongs to a class of drugs that help regulate [...]

Read More