Galwerc.com

The muscle decline involved in Duchenne muscular dystrophy results in the gradual loss of walking, movement and progresses to premature death from respiratory or heart failure. In a similar disease, Becker’s myopathy (BMD), rarer and less severe, dystrophin is produced, but too little or in an altered form.

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“In front of a 3-4 year old boy who has difficulty running, climbing stairs, falling at school, etc., the pediatrician will ask for a dosage of CPK (creatine phosphokinase), an enzyme whose abnormally high level suggests a myopathy, explains the P^r Yann Péréon, neurologist at the Nantes CHRU. Testing for mutations in the dystrophin gene confirms the diagnosis. “ Two-thirds are deletions (missing segments) in this huge gene, the largest in humans. Sometimes myopathy is discovered accidentally: “These first signs around 3 or 4 years old do not always worry those around them, and the disease may not be diagnosed until around 7 or 8 years old,