Duchenne Muscular Dystrophy (DMD) is a rare and progressive genetic disorder that primarily affects males, causing muscle weakness and degeneration over time. Despite its rarity, DMD can have a profound impact on individuals and families.
DMD can even be fatal. Researchers from the Brooklyn Hospital Center and Maimonides Medical Centre highlighted that children affected with DMD often become wheelchair dependent by the age of 12 years. By the time they reach their teenage years or 20s, death can occur due to respiratory complications, cardiac complications, pneumonia, aspiration, or airway obstruction.
Duchenne Muscular Dystrophy Causes
According to the Muscular Dystrophy Association, DMD is a genetic disorder characterised by the absence or deficiency of dystrophin, a protein that helps maintain muscle structure and function. Without dystrophin, muscle fibres become damaged and weaken over time, leading to progressive muscle degeneration.
DMD is caused by mutations in the DMD gene, located on the X chromosome. Because the gene responsible for DMD is located on the X chromosome, the disorder primarily affects males. Females can carry the gene mutation and pass it on to their children, but they typically do not experience symptoms themselves.
Diagnosing DMD typically involves a combination of physical examination, family history assessment, blood tests, and genetic testing to confirm the presence of dystrophin gene mutations. Muscle biopsy may also be performed to evaluate muscle tissue for characteristic signs of DMD.
Duchenne Muscular Dystrophy Symptoms
The symptoms of DMD typically manifest in early childhood, between the ages of 2 and 6 years. Common signs and symptoms of Duchenne Muscular Dystrophy include:
- Muscle Weakness: Difficulty with walking, running, climbing stairs, or getting up from a seated position.
- Gait Abnormalities: A waddling or toe-walking gait may develop as muscles weaken.
- Progressive Muscle Degeneration: Muscles become increasingly weak and atrophied over time, leading to loss of function and mobility.
- Delayed Motor Milestones: Delayed development of motor skills such as sitting, standing, and walking.
- Cardiomyopathy: Weakening of the heart muscle can lead to heart failure in later stages of the disease.
- Respiratory Complications: The muscles' weakness in breathing can result in respiratory difficulties and an increased risk of respiratory infections.
Duchenne Muscular Dystrophy Management
The National Organisation for Rare Disorders shared that while there is currently no cure for Duchenne Muscular Dystrophy, various treatment options and supportive therapies can help manage symptoms and improve the quality of life for individuals with DMD. These may include:
- Corticosteroids: Medications such as prednisone or deflazacort may be prescribed to help slow the progression of muscle weakness and delay loss of function.
- Physical Therapy: Exercise and physical therapy can help maintain muscle strength, flexibility, and range of motion.
- Assistive Devices: Mobility aids such as wheelchairs, braces, or orthopaedic devices may be recommended to support mobility and independence.
- Respiratory Support: Monitoring and management of respiratory function, including the use of breathing assistance devices or ventilatory support as needed.
- Cardiac Monitoring: Regular cardiac evaluations and monitoring for signs of cardiomyopathy to detect and manage heart complications.
Ongoing research efforts are focused on developing new therapies and treatments for DMD, including gene therapies, exon-skipping drugs, and other innovative approaches aimed at addressing the underlying genetic cause of the disorder. While challenges remain, advances in medical science offer hope for improved outcomes and quality of life for individuals living with DMD and their families. By raising awareness, supporting research efforts, and providing comprehensive care and support, we can help improve outcomes and enhance the lives of those living with Duchenne Muscular Dystrophy.