Muscular Dystrophy in Children: Types, Symptoms, and Management

Muscular dystrophy (MD) is a group of genetic disorders causing progressive muscle weakness and wasting. It primarily affects children and varies in severity and onset based on the type. While there is no cure, early diagnosis and proper management can improve quality of life.

1. Duchenne Muscular Dystrophy (DMD):

• Onset: 2–6 years.

• Prevalence: ~1 in 3,500 boys.

• Symptoms: Difficulty walking, enlarged calf muscles, and frequent falls.

2. Becker Muscular Dystrophy (BMD):

• Onset: Late childhood or adolescence.

• Prevalence: ~1 in 18,000 boys.

• Symptoms: Slower progression of muscle weakness compared to DMD.

3. Congenital Muscular Dystrophy (CMD):

• Onset: At birth or early infancy.

• Symptoms: Muscle weakness, joint deformities, and delayed developmental milestones.

4. Limb-Girdle Muscular Dystrophy (LGMD):

• Onset: Late childhood to adolescence.

• Symptoms: Weakness in shoulder and hip muscles, difficulty lifting, and walking.

• Progressive muscle weakness and fatigue.

• Delayed motor milestones (e.g., walking).

• Frequent falls and difficulty climbing stairs.

• Enlarged calves due to muscle replacement with fat and scar tissue.

• In severe cases: respiratory issues, scoliosis, and heart complications.

1. Clinical Examination:

• Assess muscle strength and developmental delays.

2. Blood Tests:

• Elevated creatine kinase (CK) levels indicate muscle damage.

3. Genetic Testing:

• Confirms mutations in specific genes (e.g., dystrophin gene for DMD).

4. Electromyography (EMG):

• Measures electrical activity in muscles.

5. Muscle Biopsy:

• Examines muscle tissue for structural abnormalities.

Although there is no cure, the following interventions help manage symptoms:

1. Medications:

• Corticosteroids: Slow muscle degeneration (e.g., prednisone).

• ACE inhibitors or beta-blockers to manage heart complications.

2. Physical Therapy:

• Improves mobility, reduces stiffness, and strengthens muscles.

3. Assistive Devices:

• Wheelchairs, braces, and standing aids to maintain independence.

4. Respiratory Support:

• Ventilation devices for breathing difficulties in advanced stages.

• Gene therapy and exon-skipping treatments are promising approaches to restore partial function to affected muscles.

• Clinical trials for drugs like eteplirsen (for DMD) are ongoing.

Muscular dystrophy can be challenging, but early intervention, regular monitoring, and supportive care can significantly enhance a child’s quality of life. Stay informed and connect with healthcare providers and support groups for guidance.

Explore related articles on the TPZ app, such as:

• “Genetic Disorders in Children: A Comprehensive Guide.”

• “Advancements in Pediatric Neurological Care.”