Why in news?
Recently the World Duchenne Muscular Dystrophy Day is observed on September 7. This day, recognized by the United Nations starting in 2024.
Theme for 2025 is "Family: The Heart of Care,"
 
About Duchenne muscular dystrophy (DMD) 

• Duchenne muscular dystrophy (DMD) is a severe, progressive genetic disorder characterized by muscle weakness and wasting that primarily affects boys.

Symptoms

• Symptoms usually begin between ages 2 and 5 with difficulty walking, running, climbing stairs, frequent falls, and trouble standing up from the floor.
• Enlarged calves due to muscle tissue replacement by fat (pseudohypertrophy).
• Progressive muscle weakness spreads from the hips and thighs to the shoulders, arms, and respiratory muscles.
• Toe walking, waddling gait, and muscle contractures are common.
• Most boys lose the ability to walk by early adolescence (around age 12).
• Later stages involve heart complications (cardiomyopathy) and respiratory weakness, often leading to life-threatening complications in the 20s.
• Some affected individuals may also have learning difficulties or cognitive impairments.

Causes

• X-linked recessive inheritance pattern: mostly affects males, whereas females are carriers and usually show mild or no symptoms.
• It is caused by mutations in the dystrophin gene on the X chromosome, which leads to a deficiency or absence of the dystrophin protein essential for maintaining muscle cell integrity.
• Without dystrophin, muscle cells become damaged and degenerate over time, causing loss of muscle strength and function.

Diagnosis

• Clinical evaluation combined with elevated creatine kinase (CK) levels.
• Genetic testing confirms mutations in the dystrophin gene.
  • Muscle biopsy may be done to differentiate DMD from related disorders like Becker muscular dystrophy.

Treatment and Management

• No cure currently exists for DMD.
• Corticosteroids (prednisone, deflazacort, vamorolone) help slow muscle degeneration and prolong walking ability.
• Physical therapy and exercise to maintain muscle function and reduce contractures.
• Orthopedic aids such as braces, wheelchairs, and surgical interventions for scoliosis or contractures.
• Respiratory support including cough assist devices and assisted ventilation as muscle weakness progresses.
• Cardiac care including medications and devices for heart problems.
• Emerging therapies include exon-skipping drugs (eteplirsen), gene therapy, and other molecular treatments targeting dystrophin production.

Duchenne muscular dystrophy is a profoundly disabling disorder requiring comprehensive clinical care to manage symptoms and maintain quality of life.

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