True about Duchenne’s muscular dystrophy is:
## **Core Concept**
Duchenne's muscular dystrophy (DMD) is a severe, X-linked recessive genetic disorder characterized by progressive muscle degeneration and weakness. It primarily affects boys due to its X-linked nature. The disorder is caused by mutations in the dystrophin gene, leading to an absence of dystrophin protein, which is crucial for muscle function.
## **Why the Correct Answer is Right**
The correct answer, , relates to the fact that Duchenne's muscular dystrophy is caused by a mutation in the dystrophin gene located on the X chromosome. This mutation leads to the absence of dystrophin, a protein essential for muscle integrity and function. Without dystrophin, muscle cells are easily damaged, leading to muscle weakness and progressive muscle degeneration. The disorder manifests in early childhood, with symptoms including delayed motor milestones, muscle weakness, and progressive muscle wasting.
## **Why Each Wrong Option is Incorrect**
- **Option A:** While muscle biopsy showing a significant reduction or absence of dystrophin is diagnostic, stating it as merely " " does not directly relate to a well-known fact about Duchenne's muscular dystrophy without specifying the context (e.g., genetic basis, clinical presentation).
- **Option B:** This option might discuss a clinical feature or a management strategy but is not specified; however, without direct relevance to a core fact like genetic cause or absence of dystrophin, it's considered incorrect in this context.
- **Option C:** Similarly, this option lacks specificity but might refer to another aspect of the disease; its incorrectness stems from not directly addressing a fundamental characteristic of Duchenne's muscular dystrophy.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl for Duchenne's muscular dystrophy is the **"Corticosteroids are the mainstay of treatment to slow disease progression."** Early intervention with corticosteroids can significantly delay the progression of muscle weakness, though they have substantial side effects. Another high-yield fact is that **"Duchenne's muscular dystrophy typically presents before age 6 with progressive muscle weakness."**
## **Correct Answer:** . Duchenne muscular dystrophy results from a mutation in the dystrophin gene.