What results from defects in dystrophin?

Defects in dystrophin lead to muscular dystrophy, specifically Duchenne Muscular Dystrophy (DMD), which is one of the most common forms caused by the absence or defect of this protein. Dystrophin is a crucial component of the muscle cell membrane that provides structural stability during muscle contraction. Without adequate dystrophin, muscle fibers are more susceptible to damage and degeneration, resulting in progressive muscle weakness and loss of muscle mass. This condition typically manifests in early childhood and primarily affects males due to its X-linked recessive inheritance pattern.

Understanding the role of dystrophin helps illustrate why its absence leads specifically to muscular dystrophy rather than other muscle-related issues. Other conditions, such as muscle spasms, myopathy, or muscle hypertrophy, do not specifically stem from defects in dystrophin, but rather have different underlying causes or mechanisms.