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Duchenne muscular dystrophy

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Description

Duchenne muscular dystrophy is a rare progressive disease that eventually affects all voluntary muscles and involves the heart and respiratory muscles in the final stages. Life expectancy is estimated at around 25-26 years, but it varies from person to person. With full medical care, men with this disease can live up to 30 years old. What is Duchenne Muscular Dystrophy (DMD)? Duchenne Muscular Dystrophy (DMD) is a progressive and severe genetic disorder caused by a mutation in the DMD gene that results in the absence of functional dystrophin protein. Dystrophin is a large structural protein that acts as an important stabilizer of muscle fibers during movement. In the absence of dystrophin, muscle fibers are damaged during contraction and become inflamed, which eventually leads to the replacement of muscle with fibrotic tissue and fat. DMD is an X-linked recessive disorder, affecting about 1 in 5,000 male infants. The first symptoms appear at the age of 2 to 3 years. The gradual loss of muscle tissue and function leads to wheelchair dependence by age 12, the need for a ventilator by age 20, and early death, usually in the third or fourth decade of life. The disease is very rare in women (less than 1 in a million) and is limited to case reports of individuals with Turner syndrome, a translocation involving DMD, or individuals with a biallelic DMD mutation. The main symptom of muscular dystrophy is progressive muscle wasting and weakness, which causes different complications and symptoms at different ages depending on the type of muscular dystrophy. Genetic confirmation and mutation identification of DMD are very important to confirm the diagnosis. Although exome sequencing or gene sequencing will probably be common for all patients with suspected hereditary diseases in the future, currently, genetic diagnosis is evaluated using a more cost-effective approach with MLPA or CGH ARRAY testing. Muscle biopsy is not required for most patients and is only performed when no mutation is detected using MLPA, CGH ARRAY, or SANGER sequencing.

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