Treatment Overview
Living with Duchenne muscular dystrophy presents unique challenges for children and their families. The progressive muscle weakness associated with the condition impacts mobility, energy levels, and daily independence, requiring a proactive and supportive care approach. While the diagnosis affects the entire family unit, early and consistent management significantly improves the quality of life. Treatment is essential not just to manage current symptoms but to slow the progression of muscle loss and protect vital organs like the heart and lungs. Because the condition is caused by various genetic mutations, treatment plans are tailored to the individual child’s specific needs and genetic profile (Muscular Dystrophy Association, 2023).
Overview of treatment options for Duchenne Muscular Dystrophy
The primary goal of treatment is to preserve muscle function and delay the progression of the disease for as long as possible. While there is currently no cure, modern management strategies have significantly extended life expectancy and improved physical abilities. The approach is multidisciplinary, often involving physical therapy to maintain range of motion and medical interventions to protect muscle health.
Medication serves as the cornerstone of this strategy. Pharmaceutical treatments focus on reducing inflammation, slowing muscle degeneration, and managing cardiac complications. In recent years, genetic therapies have become available for specific subsets of patients, targeting the underlying error in the DNA. These are used alongside standard supportive therapies to provide comprehensive care.
Medications used for Duchenne Muscular Dystrophy
Doctors utilize a combination of anti-inflammatory drugs and targeted genetic therapies to manage the condition.
Corticosteroids: This class of medication is currently the gold standard for treatment. Drugs such as prednisone and deflazacort are typically prescribed when motor skills begin to plateau or decline. Clinical experience suggests that daily steroid use can prolong the ability to walk independently by several years and preserve upper body strength. They are also vital for delaying the onset of breathing and heart problems.
Exon-skipping therapies: These are newer, targeted treatments designed for patients with specific genetic mutations. Medications like eteplirsen or golodirsen act on the genetic instructions for building muscle. They are not appropriate for every patient but are determined by genetic testing. These drugs are typically administered via intravenous infusion.
Cardiovascular medications: Because the heart is a muscle affected by the condition, heart health is a major priority. Angiotensin-converting enzyme (ACE) inhibitors or beta-blockers are often prescribed preventatively, even before symptoms of heart failure appear, to reduce the workload on the heart and protect the heart muscle from damage.
How these medications work
The medications used for Duchenne muscular dystrophy target the mechanisms causing muscle weakness and organ stress.
Corticosteroids work by suppressing widespread inflammation. In this condition, the lack of a protein called dystrophin causes muscle cells to break down, triggering chronic inflammation that further damages tissue. Steroids reduce this inflammation and stabilize cell membranes, slowing the rate of muscle degeneration.
Exon-skipping therapies function like a molecular patch. The genetic error in Duchenne often involves a missing section of DNA code that stops the production of dystrophin entirely. These drugs mask specific parts of the gene sequence, allowing the body to skip over the error and produce a shortened but functional form of the dystrophin protein.
Cardiovascular medications work by relaxing blood vessels and slowing the heart rate. This lowers blood pressure and makes it easier for the heart to pump blood, preventing the thickening and weakening of the heart walls that can occur over time.
Side effects and safety considerations
Long-term medication use requires careful monitoring to balance benefits with potential side effects.
Corticosteroids have known side effects: common weight gain/increased appetite (complicating mobility) and long-term risks like weakened bones (osteoporosis), delayed growth, and mood changes. Monitor bone density and growth regularly.
Exon-skipping therapies are generally well-tolerated but require difficult regular intravenous access. Monitor kidney function (urine/blood tests) due to potential kidney strain.
Cardiovascular medications can cause dizziness or low blood pressure. Seek immediate medical care for difficulty breathing, severe chest pain, or signs of serious infection, as steroids suppress the immune system.
Since everyone’s experience with the condition and its treatments can vary, working closely with a qualified healthcare provider helps ensure safe and effective care.
References
- Muscular Dystrophy Association. https://www.mda.org
- Parent Project Muscular Dystrophy. https://www.parentprojectmd.org
- Centers for Disease Control and Prevention. https://www.cdc.gov
- National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov
Medications for Duchenne Muscular Dystrophy
These are drugs that have been approved by the US Food and Drug Administration (FDA), meaning they have been determined to be safe and effective for use in Duchenne Muscular Dystrophy.