Muscular dystrophy (MD) refers to a group of genetic muscle diseases. MD causes the musculoskeletal system to weaken and degenerate over time. Muscular dystrophy is rare and affects boys more commonly than girls.

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What Is Muscular Dystrophy?

Muscular dystrophy is characterized by abnormal genes that prevent healthy muscle from forming in certain areas of the body. There are nine types of muscular dystrophy:

  • Becker muscular dystrophy is caused by the production of partially functional dystrophin, a protein essential in connecting muscle fibers to the surrounding cells. Becker MD almost exclusively occurs in boys.
  • Congenital muscular dystrophy is present from birth and can include a number of disorders with different symptoms ranging from relatively mild to severe. In serious cases, congenital MD can cause malformations in the brain.
  • Duchenne muscular dystrophy is the most common form of MD. Duchenne MD almost always occurs in boys and begins to show by the time a child starts walking.
  • Distal muscular dystrophy develops in adults from the age of 20 to 60. This form of MD progresses slowly and is not considered life-threatening.
  • Emery-Dreiffus muscular dystrophy usually begins to show in childhood and adolescence. People with Emery-Dreiffus MD often have cardiac problems such as arrhythmias.
  • Facioscapulohumeral muscular dystrophy affects both men and women. The disease begins in early adulthood and initially affects the muscles of the face and upper body.
  • Limb-girdle muscular dystrophy causes muscle weakness in the upper arms and legs. Limb-girdle MD can develop in childhood or adulthood and affects men and women.
  • Myotonic muscular dystrophy causes muscle wasting and weakness, and can affect other bodily systems such as the heart, eyes and endocrine organs. Myotonic MD varies in severity and can develop in adulthood.
  • Oculopharyngeal muscular dystrophy develops in middle-aged to older adults. This type of MD begins to affect the muscles of the face and neck, and can progress downward to the torso.

Muscular Dystrophy Causes

Muscular dystrophy is caused by mutations in the genes. Different types of MD are caused by abnormalities in different genes. MD is usually inherited and can be recessive or dominant. Mutations can also be spontaneous, caused by natural damage to the DNA. There is no known cure for muscular dystrophy, but the disease can be managed to minimize complications and discomfort.

Muscular Dystrophy Diagnosis

Children, adolescents or adults experiencing muscle weakness, a loss of balance or other motor delays may be exhibiting symptoms of muscular dystrophy. Early diagnosis can lead to a quicker intervention in the progression of MD.

Muscular dystrophy can be diagnosed with a combination of a physical exam and a range of tests, including a muscular biopsy, enzyme tests, electromyography, heart and lung monitoring and genetic tests.

Muscular Dystrophy Treatment

Treating muscular dystrophy is a lifelong process. Some forms of MD progress slowly over the course of a normal lifespan. Others, however, progress more quickly and may have severe consequences, including affecting life expectancy.

Treating muscular dystrophy requires an individualized approach for each case. Most commonly, treatment includes a combination of occupational therapy, supportive orthopedic appliances and medications. Drug therapy can include steroids that help maintain muscle tone and heart medications in cases where MD affects the function of the heart. In some cases, orthopedic surgery may be appropriate.

Therapy for MD can begin as soon as a diagnosis is made. While MD can limit an individual’s movements, attentive care and effective management of the disease can maximize quality of life and life expectancy.

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