The New England Journal of Medicine has shared an overview of Duchenne muscular dystrophy, describing it as the most common form of childhood muscular dystrophy and affecting roughly one in every 5,000 boys aged five to nine.
The post from the journal’s official account sets out the basics of the condition for a medical and general audience. DMD is a degenerative muscle disorder caused by variants in the dystrophin gene and is inherited in an X-linked recessive pattern. Because boys have only one X chromosome, a single faulty copy of the gene is enough for the condition to develop. Girls, who have two X chromosomes, typically carry the variant without developing the full condition, though they may experience some milder effects in certain cases.
Meanwhile, the cause lies in variants of the dystrophin gene. That gene normally instructs the body to produce dystrophin, a protein that helps keep muscle cells intact. Without enough of it, muscle fibres gradually break down over time.
The condition is progressive — muscles weaken steadily as a child grows. The NHS says children with DMD often show early signs such as difficulty running, climbing stairs or getting up from the floor. A diagnosis is usually confirmed through a blood test measuring creatine kinase (an enzyme released when muscle tissue is damaged) and, where needed, genetic testing.
There is no cure. But treatments including steroid medicines, physiotherapy, and — more recently — gene-based therapies aim to slow the progression and support quality of life.
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If you are concerned about a child’s muscle development or movement, speak to your GP in the first instance. The NHS can be reached on 111 for non-emergency health queries. The Muscular Dystrophy UK charity offers support and information for families affected by DMD.
Source: @NEJM