[Clinical practice guidelines for Duchenne muscular dystrophy].

Area of Science:

• Genetics
• Neuromuscular Disorders
• Pediatrics

Background:

• Duchenne muscular dystrophy (DMD) is the most prevalent X-linked recessive neuromuscular disorder.
• Affecting approximately 1 in 3500 male newborns, DMD results from mutations in the dystrophin gene (DMD) on the Xp21.2 region.
• Clinical manifestations include progressive, symmetrical muscle weakness, often leading to mortality before age 30 due to respiratory and cardiac muscle involvement.

Purpose of the Study:

• To standardize the diagnosis, treatment, and prevention of Duchenne muscular dystrophy.
• To provide a comprehensive resource by synthesizing global research, guidelines, and consensus statements.
• To empower patients and families with essential genetic knowledge and clinical management strategies.

Main Methods:

• Comprehensive literature review of relevant domestic and international research.
• Analysis of existing clinical guidelines and expert consensus reports on DMD.
• Synthesis of genetic information and clinical treatment protocols for DMD.

Main Results:

• Genetic testing reveals mutations in 93.1% of DMD patients, crucial for early intervention.
• Established a foundation for timely treatment, enhancing patient quality of life.
• Provided strategies for preventing further affected children within families.

Conclusions:

• Standardized diagnostic and treatment protocols are essential for managing DMD.
• Early genetic identification significantly improves patient prognosis and family planning.
• A unified approach to DMD management, integrating genetic insights and clinical practice, is recommended.