What is Muscular Dystrophy? Signs and Symptoms

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MD is a group of genetic diseases that weaken muscles and cause them to break down. It is a degenerative disorder in which the muscles become progressively weaker, may become stiff or painful, and may have difficulty functioning, requiring assistance. This deterioration is due to the loss of the proteins that are necessary to keep muscles strong, healthy, and functional. When these proteins break down, the muscles gradually weaken and die, increasing the risk of injury. MD most commonly affects the muscles used for movement – including the muscles in the arms, legs, hands and feet. It can also affect the muscles that people use for breathing and the heart. The most common types of MD occur when there is a breakdown of the proteins needed to build muscle tissue. MD is typically diagnosed between the ages of two and five. While there is no cure for the disease, there are treatments that can help control symptoms and prolong life expectancy.

Duchenne and Becker Muscular Dystrophy

Duchenne and Becker MD are the two most common types of muscular dystrophy, and they are caused by mutations in the same gene. The gene responsible for making dystrophin, a protein crucial to the structure and function of muscle tissue. Dystrophin is also known as a “mighty mini-molecule” because it forms a bridge between the inside of a cell and its surrounding environment. It is responsible for stabilizing the cell’s internal structure and external surface. These two disorders are X-linked genetic diseases. This means that males are more likely to develop the disease because they have an X chromosome. Females have the X chromosome and another Y chromosome. If a female has a mutation in one of the X chromosomes, it is often compensated for by the Y chromosome.

Other Forms of Muscular Dystrophy

There are other forms of MD that are caused by different genetic mutations. One of the most common types is limb-girdle MD (LGMD), which affects the muscles that connect the torso to the arms and legs. These muscles are involved in common movements like walking, running, climbing stairs, and rising from a seated position. Other types of MD include the following: - Congenital Muscular Dystrophy: This form of MD is rare and is present at birth. It is caused by mutations in the same gene that causes Duchenne and Becker MD. - Myotonic Muscular Dystro-phy: This condition can cause muscle weakness, but it is best known for causing abnormal repetitive movements and abnormal, prolonged muscle relaxation.

Mergers of MD Types: Facioscapulohumeral and limb-girdle Muscular Dystrophy

FSHD and LGMD are two types of muscle disorders that are sometimes diagnosed as a single condition called FSHD-LGMD. Both diseases cause weakness in the muscles, particularly in the face, shoulders, and pelvic area. FSHD-LGMD is thought to result from the combination of two genetic disorders, not the fusion of two gene mutations. Some people with FSHD-LGMD also have an extra chromosome, but scientists are still investigating the cause of the symptoms in this group.

Other Forms of MD

Another common type of MD is congenital MD. This form of MD is rare and is present at birth. It is caused by mutations in the same gene that causes Duchenne and Becker MD. An uncommon form of MD is myotonic muscular dystrophy (MMD). This condition can cause muscle weakness, but it is best known for causing abnormal repetitive movements and abnormal, prolonged muscle relaxation.

Care and Treatment

MD is a progressive disease that can’t be cured. Treatment aims to improve quality of life by reducing muscle cramping and pain, maintaining mobility, and preventing complications such as pressure sores and fractures. There are several types of treatments: - Medication: Patients are usually prescribed a combination of drugs that are designed to slow the progression of the disease, maintain muscle function, and reduce pain. - Exercise: Exercise can help patients maintain muscle strength and improve mobility. A physical therapist can design a tailored exercise plan for patients based on their age, disability level, and other factors.

Final Words: MD Conclusion

Muscular dystrophy is a disorder that results in weakness and degeneration of the skeletal muscles, most commonly the muscles that are used for movement. There are many forms of MD, but they all have the same general signs and symptoms: weakening of muscles with activities such as walking or climbing stairs, weakness in one or more muscles, and difficulty with everyday movements as a result. Early diagnosis gives patients much better outcomes. Treatment aims to improve quality of life by reducing muscle cramping and pain, maintaining mobility, and preventing complications such as pressure sores and fractures. There are several types of treatments, including medication, exercise, and physical therapy.