top of page
Writer's pictureMayta

Comparing Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)

A table comparing Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD):

Feature

Duchenne Muscular Dystrophy (DMD)

Becker Muscular Dystrophy (BMD)

Genetic Basis

X-linked recessive

X-linked recessive

Gene Affected

Dystrophin (DMD) gene

Dystrophin (DMD) gene

Mutation Type

Frameshift mutations leading to no dystrophin

In-frame deletions leading to partially functional dystrophin

Onset

Early childhood (2-5 years)

Later childhood to adulthood (5-15 years)

Initial Symptoms

Progressive muscle weakness, especially in proximal lower limbs, Gowers' sign

Progressive muscle weakness, especially in proximal lower limbs, muscle cramps

Other Features

Pseudohypertrophy of calves, frequent falls, difficulty running/climbing stairs

Pseudohypertrophy, exercise intolerance, milder symptoms

Progression

Rapid, wheelchair-bound by adolescence

Slower, remain ambulatory into 20s or beyond

Common Complications

Cardiomyopathy, respiratory complications

Cardiomyopathy, generally later onset

Serum Creatine Kinase

Elevated

Elevated

Muscle Biopsy

Absence of dystrophin

Reduced or abnormal dystrophin

Diagnosis

Genetic testing, muscle biopsy

Genetic testing, muscle biopsy

Pharmacological Management

Corticosteroids (e.g., prednisone, deflazacort)

Corticosteroids (used less frequently)

Supportive Care

Physical therapy, orthopedic support, cardiac and respiratory care

Physical therapy, orthopedic support, cardiac and respiratory care

Experimental Treatments

Gene therapy, exon-skipping therapies

Gene therapy, exon-skipping therapies

This table provides a side-by-side comparison of DMD and BMD, highlighting the key differences and similarities between the two conditions.


 

Introduction

Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Among these, Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are two of the most common types, both caused by mutations in the dystrophin gene. This guide aims to help pediatric residents understand the key differences and management strategies for DMD and BMD.

Duchenne Muscular Dystrophy (DMD)

Genetic Basis:

  • Inheritance: X-linked recessive.

  • Gene Affected: Dystrophin gene (DMD).

  • Mutation Type: Often due to frameshift mutations leading to an absence of dystrophin protein.

Clinical Presentation:

  • Onset: Early childhood, usually between 2-5 years old.

  • Symptoms: Progressive muscle weakness starting in the proximal muscles of the lower limbs. Gowers' sign (using hands to climb up legs to stand) is often present.

  • Other Features: Pseudohypertrophy of calf muscles, frequent falls, difficulty running and climbing stairs.

  • Progression: Rapid; most patients are wheelchair-bound by adolescence. Cardiomyopathy and respiratory complications are common.

Diagnosis:

  • Clinical Evaluation: Observation of symptoms and family history.

  • Laboratory Tests: Elevated serum creatine kinase (CK) levels.

  • Genetic Testing: Confirmatory genetic testing to identify mutations in the DMD gene.

  • Muscle Biopsy: Shows absence of dystrophin on immunohistochemistry.

Management:

  • Pharmacological: Corticosteroids (prednisone or deflazacort) to slow disease progression.

  • Supportive Care: Physical therapy, orthopedic interventions, cardiac and respiratory support.

  • Experimental Treatments: Gene therapy and exon-skipping therapies are under investigation.

Becker Muscular Dystrophy (BMD)

Genetic Basis:

  • Inheritance: X-linked recessive.

  • Gene Affected: Dystrophin gene (DMD).

  • Mutation Type: Often due to in-frame deletions allowing production of a partially functional dystrophin protein.

Clinical Presentation:

  • Onset: Later onset than DMD, typically between 5-15 years old, but can be as late as adulthood.

  • Symptoms: Similar to DMD but milder and more variable in severity. Progressive muscle weakness, primarily affecting the proximal muscles first.

  • Other Features: Muscle cramps and exercise intolerance may be present. Pseudohypertrophy is also common.

  • Progression: Slower progression than DMD; patients often remain ambulatory into their 20s or beyond. Cardiomyopathy can occur but generally at a later age.

Diagnosis:

  • Clinical Evaluation: Similar to DMD with less severe presentation.

  • Laboratory Tests: Elevated serum creatine kinase (CK) levels.

  • Genetic Testing: Identifies mutations in the DMD gene.

  • Muscle Biopsy: Shows reduced or abnormal dystrophin on immunohistochemistry.

Management:

  • Pharmacological: Similar to DMD, with corticosteroids used less frequently.

  • Supportive Care: Physical therapy, orthopedic interventions, cardiac and respiratory support, tailored to slower progression.

  • Experimental Treatments: Similar to DMD, with gene therapy and other molecular treatments being researched.

Summary of Key Differences

  1. Severity and Progression:

    • DMD: Presents earlier and progresses more rapidly.

    • BMD: Slower progression, milder symptoms, later onset.

  2. Genetic Mutation:

    • DMD: Frameshift mutations leading to no functional dystrophin.

    • BMD: In-frame deletions allowing some functional dystrophin.

  3. Clinical Onset:

    • DMD: Early childhood (2-5 years old).

    • BMD: Later onset (5-15 years old or adulthood).

  4. Ambulation:

    • DMD: Usually wheelchair-bound by adolescence.

    • BMD: Patients maintain ambulation into their 20s or beyond.

Importance for Diagnosis, Genetic Counseling, and Management

Understanding the distinctions between DMD and BMD is crucial for accurate diagnosis, effective management, and providing appropriate genetic counseling. Early diagnosis and intervention can significantly improve the quality of life for patients and their families.

Practical Tips for Pediatric Residents

  • Early Recognition: Be vigilant for early signs such as delayed motor milestones, frequent falls, and Gowers' signs.

  • Genetic Testing: Confirm diagnosis with genetic testing, especially in families with a history of muscular dystrophy.

  • Multidisciplinary Approach: Collaborate with neurologists, cardiologists, pulmonologists, and physical therapists for comprehensive care.

  • Family Support: Provide genetic counseling and support resources for families coping with the diagnosis.

  • Stay Updated: Keep abreast of advancements in gene therapy and emerging treatments that could offer new hope for patients with muscular dystrophy.

By understanding and recognizing the differences between DMD and BMD, pediatric residents can play a pivotal role in the early diagnosis, management, and support of affected patients and their families.

Recent Posts

See All

Ischemic stroke keeps BP?

For ischemic stroke, AHA/ASA guidelines recommend keeping BP < 185/110 mmHg with IV t-PA, and allowing BP < 220/120 mmHg without t-PA....

ระบบบริการปฐมภูมิ (Primary Health Care) ในประเทศไทย

ระบบบริการปฐมภูมิถือเป็นรากฐานสำคัญของระบบสาธารณสุขในประเทศไทย มีบทบาทในการดูแลสุขภาพขั้นต้นให้แก่ประชาชน โดยเฉพาะในพื้นที่ชนบทและชุมชนห่...

คุณลักษณะและการจัดระบบบริการปฐมภูมิในประเทศไทย

การบริการปฐมภูมิ (Primary Health Care) มีบทบาทสำคัญในระบบสาธารณสุข เนื่องจากเป็นจุดแรกที่ประชาชนสามารถเข้าถึงการดูแลสุขภาพได้อย่างเหมาะสม...

Comentarios

Obtuvo 0 de 5 estrellas.
Aún no hay calificaciones

Agrega una calificación
Post: Blog2_Post
bottom of page