Which genetic disorder is specifically characterized by muscle weakness and progressive muscle degeneration?

Prepare for the Pediatric Neurology Test with flashcards and questions. Study with hints and explanations. Excel in your exam!

The condition characterized by muscle weakness and progressive muscle degeneration is Duchenne Muscular Dystrophy. This genetic disorder is caused by mutations in the dystrophin gene, which is crucial for maintaining the integrity of muscle cells. The absence or deficiency of dystrophin leads to progressive damage and degeneration of muscle tissue, resulting in symptoms such as muscle weakness, particularly in the proximal muscles, and challenges with motor skills.

Duchenne Muscular Dystrophy typically presents in early childhood, with boys being predominantly affected due to its X-linked recessive pattern of inheritance. As the disorder progresses, individuals often experience difficulties with mobility, and additional complications may arise, affecting respiratory muscles and the heart.

In contrast, Fragile X syndrome is primarily a genetic condition associated with intellectual disability and behavioral issues rather than muscle degeneration. Cerebral palsy involves a group of disorders affecting movement and posture but is not directly caused by muscle degeneration itself, while Autism spectrum disorder is characterized by social communication challenges and behavioral patterns, with no direct link to muscle weakness or degeneration.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy