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Muscular Dystrophy

About Muscular Dystrophy

Muscular dystrophy is the term for a group of neuromuscular diseases (including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss muscular dystrophies) in which inherited traits cause muscles to become weak, shrink (atrophy), and break down over time. Some forms of muscular dystrophy first appear in infancy or early to late childhood, while others appear in adolescence, middle-age, or later. The most common form of muscular dystrophy, Duchenne muscular dystrophy, usually affects males and appears in boys between the ages of two and six. In addition to progressive muscle weakness, people with muscular dystrophy may have other associated health problems including:

  • Heart problems
  • Curvature of the spine (scoliosis)
  • Cataracts

The prognosis for people with muscular dystrophy depends on the type of disorder and speed of its progression. Doctors use a combination of clinical experience, information about other affected family members, muscle biopsy analysis, and genetic testing to discover a specific cause. An accurate diagnosis is important as it will ensure that patients receive more meaningful genetic counseling and gene-specific treatments, when they become available in the future. In some people muscular dystrophy is mild and progresses very slowly over a normal lifespan, while others rapidly develop severe weakness.

Treatment for Muscular Dystrophy

Medical Treatment for Muscular Dystrophy

There is no current cure for muscular dystrophy, so doctors' treatment goals are to prevent deformity and enable patients to function as independently as possible. Doctors sometimes prescribe medications to relieve the symptoms of muscular dystrophy such as delayed muscle relaxation in myotonic muscular dystrophy and corticosteroids such as prednisone to improve muscle strength in Duchenne muscular dystrophy.

Surgical Treatment for Muscular Dystrophy

Doctors sometimes treat the complications of muscular dystrophy with surgery. Contracture, a permanent shortening of a muscle or tendon that can develop in people with muscular dystrophy, can be released surgically, and scoliosis, a sideways curvature of the back bone, can sometimes be corrected with surgery.

Rehabilitation for Muscular Dystrophy

At the Eleanor and Lou Gehrig MDA/ALS Research Center at NewYork-Presbyterian's Columbia University Medical Center campus, rehabilitation and physical therapy are integrated into the care of patients with muscular dystrophy. Patients treated at the Center can work with rehabilitation specialists including physiatrists, physical and occupational therapists, and speech-language pathologists. The goal of the rehabilitation team is to help patients maintain function and prevent complications of disease and muscle weakness.

Rehabilitation experts at the Eleanor and Lou Gehrig MDA/ALS Center work with patient throughout their care. They will:

  • Evaluate muscle strength and motor skills and develop an individualized program to maintain existing motor function.
  • Recommend devices including neck supports, canes, walkers, and wheelchairs and equipment for the home to ensure patient safety and mobility.
  • Discuss ways to modify activities, conserve energy, and simplify work.

Research for Muscular Dystrophy

Investigators at the Eleanor and Lou Gehrig MDA/ALS Research Center and the Columbia University Motor Neuron Center are currently working to identify the mutations that cause specific types of muscular dystrophy, determine how these mutation cause disease, and uncover interventions that may reduce the effects of the mutation.

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