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Muscular Dystrophy

April 16, 2012

Caleb Schneider

First thought to be a symptom of tuberculosis in the early 1800’s, we now know Muscular Dystrophy, or MD, is an inherited disorder.  It was first described in 1830 by Sir Charles Bell in a small publication about young boys plagued by progressive weakness.  More articles were published in the 1850’s, further describing the disorder.  A few years later, a French neurologist named Guillaume Duchenne published his work about a very severe and, unfortunately, very common form of the disease, which now shares his name.  Besides Duchenne Muscular Dystrophy, there are nine other groups of the disease; Becker MD, Congenital MD, Emery-Dreifuss MD, Fascioscapulohumeral MD, Limb-girdle MD, Distal MD, Myotonic MD, and Oculopharyngeal MD.  Each is characterized by progressively weakened and degenerated muscles.

Muscular Dystrophy is an inherited disease, meaning that it is passed down from parents to children.  Genes are responsible for a persons traits and characteristics, including the formation of proteins.  The genes code for the dystrophin protein, and others, of people with muscular dystrophy are defective.  The defective genes that are passed down do not allow for the proper formation of dystrophin or  significant quantities of it.   Lack of this structural protein it the cause of the signs and symptoms of muscular dystrophy.  A few symptoms of MD are poor balance, lack of ability to walk, restrained array of movement, and respiratory problems.

After a thorough medical and family history review, there are several tests that can be done to confirm muscular dystrophy.  Muscle biopsies, taking samples of muscle tissue, are used to confirm the diagnosis, while a DNA test can be done to find the specific form of the disorder.  Blood and urine tests can gather information to help the doctor confirm his diagnosis.  These tests check for certain enzymes, aldolase and creatine kinase, and proteins, myoglobin, at abnormal levels.  Exercise tests can detect levels of certain chemicals and help determine what kind of MD is presenting.

Since MD is genetic it cannot be cured.  The goal of treatment is to keep the patient as independent and to prevent complications.  Physical therapy helps improve range of motion and keeps muscles as strong as possible.  Wheelchairs and other orthopedic appliances help with mobility and sometimes surgery can help too.  In some cases, corticosteroids are taken to keep children walking as long as possible.  Many times respiratory assistance is needed, especially with more severe forms of the disease.

The incidence and severity of MD depends on the type.  Some, like Duchenne MD, are deadly, while others, such as some forms of Congenital MD, allow for a fairly normal, long life.  Duchenne MD accounts for almost 50 percent of all MD cases, affecting one in 3,500 male births.

Broad programs of research are underway to help better understand MD and its causes.  There are several drug and gene therapy researches being conducted by the National Institutes of Health and other institutions.  In 2001, George W. Bush signed into law the Muscular Dystrophy Community Assistance, Research and Education Amendment Act which paved the way for the Wellstone Muscular Dystrophy Research Network.  Perhaps the best known MD research and support organization is the Muscular Dystrophy Association (MDA).  MDA is more than just the telethons, they sponsor many events across the country and are the worlds largest non-governmental sponsor researching cures for neuromuscular diseases. Other, more specific, support groups are Muscular Dystrophy Family Foundation, Parent Project Muscular Dystrophy, Cure CMD,  Fascioscapulohumeral Muscular Dystrophy Society, Coalition to Cure Caplain 3, International Myotonic Dystrophy Association, and Jane Foundation.


National Institute of Neurological Disorders and Stroke


Society for Neuroscience

Mayo Clinic

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