Description
Pediatric muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration in children. The most common type, Duchenne muscular dystrophy (DMD), typically manifests in early childhood, often between the ages of 2 and 5. Children with this condition experience difficulty with motor functions, such as walking, climbing stairs, and maintaining balance. As the disease progresses, it can affect the heart and respiratory muscles, leading to more severe health complications. Early diagnosis and intervention, including physical therapy, medications, and sometimes surgical treatments, are crucial in managing symptoms and improving quality of life for affected children. Research into gene therapy and other advanced treatments continues to offer hope for more effective therapies in the future.
Résumé
- Muscular dystrophy is a rare genetic neuromuscular disorder caused by defects in muscle proteins, leading to muscle weakness and difficulty in movement. The incidence is around 10 to 20 per one lakh population, with over 75 different types identified. Diagnosis requires identifying a primary myopathy with a genetic basis, progressive course, and muscle fiber degeneration on biopsy.
- Common symptoms in children include delayed motor skill development, difficulty controlling muscles, decreased muscle size, and potential mental delays. Several types affect children and adults, including Duchenne, Becker, myotonic, limb-girdle, facioscapulohumeral, congenital, and Emery-Dreifuss muscular dystrophies. The specific muscles affected vary with each type.
- Duchenne muscular dystrophy is the most common, affecting all ages and ethnic groups, with an incidence of 3,600 to 5,000 of one lifeborn infant. It is X-linked recessive, with boys commonly affected, and is characterized by the absence of the protein dystrophin. Symptoms manifest by age 3 to 5, leading to wheelchair dependence by 10 to 15.
- Frequent falls, difficulty walking up and down stairs or standing from the floor, and a waddling gait are common signs. Gower's sign, where the child uses arms to stand from a squatting position, is a key indicator. Calf pseudo-hypertrophy occurs due to muscle fiber replacement by connective tissue and fat.
- Complications include respiratory muscle weakness, leading to breathing difficulties and pneumonia, and cardiomyopathy. Scoliosis and contractures can cause joint deformities. Management involves a multidisciplinary team and focuses on improving quality of life.
- Diagnosis includes elevated creatine phosphokinase (CPK) levels, muscle biopsy, and DNA mutation analysis. Newer treatments such as gene therapy are under clinical trials, with antisense oligonucleotides used to skip exons and produce a modified dystrophin protein. Pre-implantation genetic diagnosis offers potential for preventing inheritance. Steroids help improve muscle function but carry side effects like osteoporosis and weight gain.
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