Dystrophin is lacking in –
## **Core Concept**
Dystrophin is a crucial protein for muscle function, and its deficiency leads to a specific group of genetic disorders. The protein is integral to muscle fiber integrity and signaling. Mutations in the dystrophin gene cause various forms of muscular dystrophy.
## **Why the Correct Answer is Right**
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are directly linked to dystrophin deficiency. DMD is characterized by the near-total absence of dystrophin, while BMD has reduced levels or a dysfunctional form of dystrophin. The lack of dystrophin disrupts the structural and functional integrity of muscle cells, leading to progressive muscle degeneration.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Myasthenia gravis is an autoimmune disease characterized by antibodies against acetylcholine receptors at the neuromuscular junction, not related to dystrophin.
- **Option B:** Myotonic dystrophy is caused by mutations in the DMPK gene (or CNBP for type 2), distinct from dystrophin-related muscular dystrophies.
- **Option C:** Facioscapulohumeral muscular dystrophy (FSHD) results from mutations affecting the DUX4 gene, not related to dystrophin.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that patients with Duchenne muscular dystrophy often exhibit elevated creatine kinase levels due to muscle damage and may have a positive Gower's sign, indicating proximal muscle weakness.
## **Correct Answer:** . Duchenne Muscular Dystrophy