Dystrofisesti

Dystrofisesti refers to a group of genetic disorders characterized by progressive muscle weakness and degeneration. The term originates from the Greek words *dys-* (meaning "bad" or "abnormal") and *trophē* (meaning "nourishment" or "development"), indicating impaired muscle development or maintenance. These conditions primarily affect skeletal muscles, though some forms may also involve the heart or smooth muscles.

The most well-known dystrophies belong to a category called muscular dystrophies, with Duchenne muscular dystrophy (DMD) being the most common and severe form. DMD is caused by mutations in the *DMD* gene, which encodes dystrophin—a protein essential for muscle fiber integrity. Without sufficient dystrophin, muscle cells become fragile and degenerate over time, leading to muscle wasting, mobility loss, and complications such as respiratory or cardiac failure.

Other dystrophies include Becker muscular dystrophy (BMD), which shares genetic roots with DMD but progresses more slowly, and limb-girdle muscular dystrophy (LGMD), a heterogeneous group affecting muscles of the shoulders, hips, and pelvic region. Emery-Dreifuss muscular dystrophy (EDMD) is another form, often associated with cardiac abnormalities.

Diagnosis typically involves genetic testing, muscle biopsies, or electromyography (EMG) to assess muscle function. Treatment focuses on managing symptoms, such as physical therapy, orthopedic interventions, and assistive devices. Gene therapy and experimental treatments, including exon-skipping therapies for DMD, are areas of active research.

Dystrophic conditions are inherited in an X-linked recessive pattern for DMD/BMD and can be autosomal dominant or recessive for other forms. Early diagnosis and multidisciplinary care are crucial for improving quality of life and slowing disease progression. Public awareness and genetic counseling play key roles in supporting affected individuals and families.