Duchenne myodystrophy is a hereditary neuromuscular disease that manifests in boys and is characterized by progressive muscle weakness and fatigue, symmetrical pseudohypertrophy of the lower legs and symmetrical atrophy of other muscles in combination with bone and joint deformities, cardiovascular and respiratory disorders. Duchenne myodystrophy is characterized by onset in the first 3-5 years of a child’s life, a severe course leading to complete immobility and death of patients on average by the age of 15-25 years.
Symptoms of Duchenne myodystrophy
As early as in the first year of life, the child has delayed motor development: delayed sitting, standing and walking. The child is often characterized by clumsiness and stumbles when walking.
Muscle weakness develops by 3-4 years of age, first manifested by increased fatigue when walking up stairs or long distances. Then the typical duck-like gait typical of myodystrophies appears. Behavioral features include active support of the body with the hands when rising from a sitting position.
Muscle atrophy begins in the thighs and pelvic girdle, then spreads to the shoulder girdle, back, and arms. Pseudohypertrophy of the calf muscles is characteristic. Also observed:
- Loss of tendon reflexes.
- Development of contractures and tendon retractions.
- Curvature of the spine.
- Deformities of the thorax and feet.
Progression of the disease leads to cardiomyopathy, arrhythmias, and blood pressure fluctuations. Oligophrenia, autism, dyslexia, and memory problems are observed in 30% of patients.
Early diagnosis of Duchenne myodystrophy
Early detection of the disease is critical to initiating effective treatment and slowing the progression of symptoms. Diagnosis may include:
- Genetic testing: Because Duchenne myodystrophy is an inherited disorder, genetic testing can confirm the diagnosis before symptoms become apparent.
- Muscle biopsy: Examination of muscle tissue helps identify a deficiency of dystrophin, the protein whose disorder underlies the disease.
- Electromyography (EMG) and blood tests for creatine kinase (CK) levels: Elevated CK levels may indicate muscle tissue damage.
Treatment of Duchenne myodystrophy
1. Glucocorticoids (corticosteroids)
Anti-inflammatory corticosteroid therapy is the primary treatment for Duchenne myodystrophy. These drugs help restore muscle strength, reduce inflammation and swelling, and may prolong the patient’s ability to walk. Treatment continues even after the ability to walk is lost to slow the progression of scoliosis and maintain respiratory and cardiac function. However, it is important to watch for side effects such as weight gain and growth retardation.
2. Cardioprotective therapy
Heart problems such as cardiomyopathy are a leading cause of death. The use of inhibitors and beta-blockers helps reduce the workload on the heart and prevents the development of cardiomyopathy.
3. Metabolic therapy
For the prevention of osteoporosis, preparations with vitamin D3 and calcium are prescribed. At the decompensation stage, cardiotonics and other drugs may be recommended.
4. Gene therapy
The goal of genetic treatment is to eliminate the mutation in the DMD gene and restore dystrophin synthesis. There are drugs that help skip “stop codons,” which helps restore dystrophin synthesis. A method of skipping exons is also being developed to help restore dystrophin function and turn a severe form of the disease into a milder form.
Thus, modern therapies, including corticosteroid therapy, cardioprotective agents, metabolic therapy, and gene therapy, can significantly improve the quality of life of patients with Duchenne myodystrophy.
Psychological support and social adaptation
Duchenne myodystrophy is not only a physical disease, but also a serious psychological burden for the patient and his family. Early intervention by a psychologist, counseling for social adjustment, and school support can significantly improve the patient’s quality of life.
- Psychological support: It is important to offer help in adapting to life with limitations and developing emotional resilience.
- Education and school: Some patients may have learning difficulties, so it is important to adapt the educational process, provide additional learning opportunities and support academic achievement.
Tips for parents and caregivers
- Early referral to specialists: It is important for parents to notice signs of the disease early and see a pediatrician or geneticist for consultation.
- Physical activity: It is important to maintain moderate physical activity in children, which will help maintain muscle mass and functionality.
- Use of Assistive Devices: The use of special orthotics such as walkers, splints, and orthotics can help improve mobility and reduce physical strain.
These additional sections will help the reader gain a better understanding of Duchenne myodystrophy, its diagnosis, treatment, and living with the disease.
Conclusion
Duchenne muscular dystrophy is a progressive disease with significant impacts on both physical and emotional well-being. Early diagnosis and treatment, including corticosteroids, cardioprotective therapies, and gene therapy, can slow disease progression and improve quality of life. Along with medical care, psychological support and lifestyle adaptations are essential for better coping and functionality. While there is no cure, ongoing research and timely interventions offer hope for improved outcomes and more fulfilling lives for patients.
