Duchenne / Becker Muscular Dystrophy
At the Neurology & Neuromuscular Care Center we specialize in the comprehensive diagnosis, treatment, and long-term management of rare neuromuscular conditions, including Duchenne and Becker Muscular Dystrophy (DBMD). Our multidisciplinary team provides coordinated care that supports patients and families at every stage of their condition. We provide early evaluation and genetic testing as well as advanced therapies and access to clinical research.
We are the first CureDuchenne Clinic in the country. With the support of CureDuchenne, we have seen patients with DBMD in a multidisciplinary environment, including neurology, cardiology, pulmonology,respiratory therapy, dietician, and physical therapy. We are committed to delivering personalized, evidence-based care designed to preserve strength, function, and quality of life.
What is DBMD?
Duchenne and Becker Muscular Dystrophy (DBMD) are considered part of a spectrum of conditions known as dystrophinopathies, which are inherited disorders that cause muscles to weaken and break down over time. Both conditions primarily affect boys. There is a wide range of severity in dystrophinopathies, but patients with DMD usually present at an early age with progressive muscle weakness, particularly in the hips and legs, followed in most cases by loss of ambulation. The disease is complex because dystrophinopathies affect muscles that allow movement, the heart, and other organs. Although no cure exists, treatments focus on managing symptoms, including physical therapy and respiratory support. There are several disease modifying therapies as well as new research opportunities.
What is the Difference Between Duchenne and Becker Muscular Dystrophy?
The key difference between Duchenne muscular dystrophy and Becker muscular dystrophy lies in severity and age of onset.
Duchenne Muscular Dystrophy (DMD) is the more severe and more common form. Symptoms typically appear between the ages of 2 and 5 years of age. Muscle weakness progresses more rapidly.
Becker Muscular Dystrophy (BMD) is generally milder and progresses more slowly. Symptoms may not appear until adolescence or even adulthood.
Both conditions affect the same gene, but in Duchenne, the body produces little to no dystrophin, whereas in Becker, some functional dystrophin is produced, leading to a milder course.
What Causes DBMD?
DBMD is caused by mutations in the dystrophin gene located on the X chromosome. Because it is an X-linked genetic condition, it primarily affects boys, while mothers and girls are typically carriers (though some may have mild symptoms and mothers have a risk of developing cardiomyopathy).
The dystrophin protein plays a crucial role in protecting muscle cells during contraction, as it serves as a shock absorber. Without sufficient dystrophin, muscle fibers are damaged and gradually replaced with fat and connective tissue, resulting in progressive weakness.
How Common is DBMD?
Duchenne muscular dystrophy occurs in approximately 1 in 3,500 to 5,000 male births worldwide, making it one of the most common inherited neuromuscular disorders in children. Becker muscular dystrophy is less common, occurring in about 1 in 18,000 male births.
What Are the First Signs of Duchenne and Becker Muscular Dystrophy?
Early signs of Duchenne muscular dystrophy often appear in early childhood and may include:
Delayed walking
Frequent falls
Difficulty running or climbing stairs
Trouble rising from the floor (using hands to push up on legs, known as Gower sign)
Enlarged calf muscles
In Becker muscular dystrophy, symptoms may begin later and be more subtle, such as:
Exercise intolerance
Muscle cramps
Weakness in the hips and thighs
What Are the Symptoms of DBMD?
As DBMD progresses, symptoms may include:
Progressive proximal then distal muscle weakness, beginning in the hips and legs
Difficulty walking and eventual loss of ambulation
Scoliosis (curvature of the spine)
Cardiomyopathy (heart muscle weakness)
Respiratory muscle weakness
Fatigue
Learning differences (more common in Duchenne)
Because DBMD affects skeletal, cardiac, and respiratory muscles, ongoing monitoring is essential.
How is DBMD Diagnosed?
Diagnosis typically begins with a clinical evaluation and review of family history. Additional testing may include:
Blood tests showing elevated creatine kinase (CK) levels
Genetic testing to identify mutations in the dystrophin gene
Muscle biopsy (less common today due to advances in genetic testing)
Cardiac and pulmonary evaluations to assess organ involvement
Early and accurate diagnosis allows for earlier intervention, genetic counseling, and access to emerging therapies and clinical trials.
How is DBMD Treated?
While there is currently no cure for DBMD, treatment focuses on slowing disease progression, managing symptoms, and maintaining quality of life. A comprehensive care plan may include:
Corticosteroids to help preserve muscle strength
Cardiac medications to protect heart function
Physical and occupational therapy
Respiratory support
Orthopedic management for scoliosis or contractures
Genetic counseling for families
Disease modifying therapies including, exon skipping, gene transfer therapy and other medications dedicated to muscle regeneration
Participation in clinical trials evaluating novel therapies, including gene-based treatments
At the Neurology & Neuromuscular Care Center, our neuromuscular specialists coordinate care across disciplines to ensure patients receive proactive monitoring and access to the latest therapeutic advancements. With early diagnosis, comprehensive management, and ongoing support, individuals with Duchenne and Becker muscular dystrophy can experience improved outcomes and enhanced quality of life.
Buddy
The Aguirre Twins
Contact
Phone: (972) 982-7411
FAX: (972) 982-7610
Email: newpatient@neuromdcenter.com
Business Hours:
Monday – Friday
9AM- 5PM By Appointment Only
1651 Justin Rd.
Flower Mound, TX 75028
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