Muscular dystrophy: Understanding a degenerative disease

Muscular dystrophy is a group of genetic diseases characterized by progressive weakness and degeneration of skeletal muscles. These diseases affect people of all ages and genders, although specific forms are more common in certain demographic groups. Symptoms and severity can vary considerably between different types of muscular dystrophy.

Types of Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD)

DMD is the most common and severe form of childhood muscular dystrophy. It primarily affects boys and becomes apparent in early childhood. Muscle weakness usually begins in the legs and pelvis before spreading to other parts of the body. People with DMD usually require a wheelchair before adolescence and have a reduced life expectancy.

Becker Muscular Dystrophy (BMD)

Similar to DMD, BMD is less severe and its symptoms appear later, usually in adolescence or early adulthood. The progression of muscle weakness is slower, and life expectancy is usually longer compared to DMD.

Myotonic dystrophy

This form primarily affects adults and is characterized by the inability to relax muscles after contracting them, as well as muscle weakness and atrophy. It can also involve cardiac and respiratory complications.

Facioscapulohumeral Muscular Dystrophy (FSHD)

FSHD affects the muscles of the face, shoulders, and arms. Muscle weakness usually begins in the teen years and progresses slowly. It can range from mild weakness to significant disability.

Causes and Genetics

Most forms of muscular dystrophy are inherited and caused by mutations in specific genes responsible for producing proteins that protect muscle fibers. For example, DMD and BMD are linked to mutations in the DMD gene, which encodes dystrophin, a protein crucial for the stability of muscle membranes.

Diagnosis

Diagnosing muscular dystrophy usually involves several tests, including:

• Blood tests: To detect elevated levels of creatine kinase (CK), an enzyme that is released into the blood when muscles are damaged.
• Genetic testing: To identify specific mutations in associated genes.
• Muscle biopsies: To examine the structure and composition of muscles.
• Electromyography (EMG): To assess electrical activity in muscles.

Recent Treatments and Advances

There is currently no cure for muscular dystrophy, but several treatments can help manage symptoms and improve quality of life. These include physical therapy, occupational therapy, medications such as corticosteroids, and orthotic devices.

Gene therapy

One of the most promising fields in muscular dystrophy research is gene therapy. This approach seeks to correct underlying genetic mutations. Recent clinical trials have shown encouraging results, especially for DMD, where the introduction of functional genes has improved muscle function in some patients.

Stem Cell Therapies

Stem cell therapies are also being investigated as a possible treatment. The idea is to use stem cells to regenerate damaged muscle tissue. Although this area of ​​research is in the early stages, it offers considerable hope for the future.

Innovative Medicines

New drugs, such as exon-skipping modulators, are being developed to treat DMD. These drugs allow cells to “skip” the defective parts of the DMD gene during dystrophin production, producing a functional form of the protein.

Muscular dystrophy is a complex and devastating disease, but recent advances in genetic research and innovative therapies offer hope. While there is still no cure, current treatments can significantly improve the quality of life for those affected. The scientific community continues to work hard to find effective solutions and, one day, a definitive cure for this debilitating condition.