Muscular Dystrophy


The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.

Duchenne muscular dystrophy

About half of people with muscular dystrophy have this variety. Although girls can be carriers and mildly affected, the disease typically affects boys.

About one-third of boys with Duchenne muscular dystrophy don't have a family history of the disease, possibly because the gene involved may be subject to sudden abnormal change (spontaneous mutation).

Signs and symptoms typically appear between the ages of 2 and 3, and may include:

  • Frequent falls

  • Difficulty getting up from a lying or sitting position

  • Trouble running and jumping

  • Waddling gait

  • Walking on the toes

  • Large calf muscles

  • Muscle pain and stiffness

  • Learning disabilities

Becker muscular dystrophy

Signs and symptoms are similar to those of Duchenne muscular dystrophy, but typically are milder and progress more slowly. Symptoms generally begin in the teens but may not occur until the mid-20s or even later.

Other types of muscular dystrophy

Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms first begin.

Examples include:

  • Myotonic. Also known as Steinert's disease, this form is characterized by an inability to relax muscles at will following contractions. Myotonic muscular dystrophy is the most common form of adult-onset muscular dystrophy. Facial and neck muscles are usually the first to be affected.

  • Facioscapulohumeral (FSHD). Muscle weakness typically begins in the face and shoulders. The shoulder blades might stick out like wings when a person with FSHD raises his or her arms. Onset usually occurs in the teenage years but may begin in childhood or as late as age 40.

  • Congenital. This type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.

  • Limb-girdle. Hip and shoulder muscles are usually the first affected. People with this type of muscular dystrophy may have difficulty lifting the front part of the foot and so may trip frequently. Onset usually begins in childhood or the teenage years.

Therapy

Several types of therapy and assistive devices can improve quality and sometimes length of life in people who have muscular dystrophy.

Examples include:

  • Range-of-motion and stretching exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and become fixed in that position. Range-of-motion exercises can help to keep joints as flexible as possible.

  • Exercise. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful. But it's important to talk to your doctor first because some types of exercise might be harmful.

  • Braces. Braces can help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Braces can also aid mobility by providing support for weakened muscles.

  • Mobility aids. Canes, walkers and wheelchairs can help maintain mobility and independence.

  • Breathing assistance. As respiratory muscles weaken, a sleep apnea device may help improve oxygen delivery during the night. Some people with severe muscular dystrophy may need to use a machine that forces air in and out of their lungs (ventilator).


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