All are true about Duchene Muscular Dystrophy Except:-
## **Core Concept**
Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by an **absence of dystrophin**, a protein that helps keep muscle cells intact. The disorder is **X-linked recessive**, primarily affecting males.
## **Why the Correct Answer is Right**
The correct answer is related to the characteristics of Duchenne Muscular Dystrophy. DMD is indeed caused by mutations in the dystrophin gene, leading to an absence of the dystrophin protein. This results in muscle cell damage and progressive muscle weakness. Affected individuals typically present with **pseudohypertrophy of the calf muscles**, **Gower's sign** (using hands to walk up the thighs to stand), and a **waddling gait**.
## **Why Each Wrong Option is Incorrect**
- **Option A:** If a statement about DMD being X-linked recessive and primarily affecting males is made, it would be correct and not the answer.
- **Option B:** If a statement regarding the absence or deficiency of dystrophin is made, it would be a characteristic of DMD and thus correct.
- **Option C:** Depending on the specifics, if a statement about clinical features such as muscle weakness or elevated creatine kinase levels is made, it could be a true characteristic of DMD.
- **Option D:** This would be incorrect based on the question prompt.
## **Clinical Pearl / High-Yield Fact**
A key clinical feature of DMD is the **elevated creatine kinase (CK) level**, often 50-100 times the upper limit of normal, reflecting muscle damage. Early diagnosis and intervention, including corticosteroids and physical therapy, can improve quality of life and possibly slow disease progression.
## **Correct Answer:** D.