A muscular dystrophy is a group of genetic diseases that weaken the musculoskeletal system and affect a person’s ability to walk. These are genetic conditions and can be inherited or an individual may be the first one in their family affected. Some types of muscular dystrophy will present symptoms in early childhood, while other types will appear in adulthood. Different muscle groups also may be affected depending on the type of muscular dystrophy. The most common forms of muscular dystrophy are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy.
Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. It generally appears in 3-to 6-year-old boys and worsens rapidly. Becker muscular dystrophy, on the other hand, has symptoms similar to Duchenne muscular dystrophy but symptoms most commonly begin in the teens to mid-20s and progress slowly.
Other health problems commonly associated with muscular dystrophy include the following:
- Heart problems.
- A lateral/sideways, curvature, and rotation of the backbones (vertebrae), giving the appearance of leaning to one side.
Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms. The following are the most common symptoms of muscular dystrophy:
- Pain and stiffness in the muscles
- Clumsy movement
- Difficulty climbing stairs
- Repeated falling
- Unable to jump or hop normally
- Tiptoe walking
- Leg pain
- Facial weakness
- Inability to close eyes or whistle
- Shoulder and arm weakness
- The curvature of the spine
- Wasting of thigh muscles
- Abnormal enlargement of the calves
- Limbs drawing inward and becoming fixed in position
- Enlargement of the heart
- Learning disabilities, such as developing speech later than usual
- Difficulty swallowing, with a risk of aspiration pneumonia. A feeding tube is sometimes necessary.
Muscular dystrophy is usually an inherited condition caused by a mutation in one of the genes that affect proteins in the muscles. This mutation causes the protein to be missing or altered so it doesn’t work correctly. Each type of muscular dystrophy is caused by a different mutation. For example, a defective gene for dystrophin, a protein that helps keep muscle cells intact, is what causes Duchenne’s muscular dystrophy. For the less common forms of muscular dystrophy, researchers are still trying to find the specific gene defect that causes the disease. While most forms of muscular dystrophy are inherited, a few types originate in a spontaneous gene mutation without any family history of the disease.
To date, there is no known treatment, medicine, or surgery that will cure muscular dystrophy, or stop the muscles from weakening. The goal of treatment is to prevent deformity and allow the child to function as independently as possible.
Muscular dystrophy is a progressive condition that needs life-long management to prevent deformity and complications. Walking and sitting often becomes more difficult as the child grows. Usually, by the age of 12, the child needs a wheelchair because the leg muscles are too weak to work. Heart or lung problems often occur by the late teenage years or into the early 20s. Management includes focusing on preventing or minimizing deformities and maximizing the child’s functional ability at home and in the community. Management of muscular dystrophy is either nonsurgical or surgical. Nonsurgical interventions may include:
- Physical therapy
- Positioning aids used to help the child sit, lie, or stand
- Braces and splints used to prevent deformity, promote support, or provide protection
- Medications (research trials may help advance treatment)
- Nutritional counseling
- Psychological counseling
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