Muscular Dystrophies Health Channel

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Superficial anterior muscles

Muscular dystrophy

Definition

Muscular dystrophy is a group of disorders that involve progressive muscle weakness and loss of muscle tissue.

Alternative Names

Inherited myopathy; MD

Causes, incidence, and risk factors

The group of diseases called muscular dystrophies (MD) includes many inherited disorders, such as:

Lambert-Eaton syndrome and myasthenia gravis also have symptoms that may be similar to early stages of some types of muscular dystrophies, so these disorders must be ruled out before muscular dystrophy is diagnosed.

Symptoms

Symptoms vary with the different types of muscular dystrophy. Some types, such as Duchenne muscular dystrophy, are deadly, while other types cause little disability and are associated with normal life span.

The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.

Symptoms include:

Some types of muscular dystrophy involve the heart muscle, causing cardiomyopathy or arrhythmias.

Signs and tests

A physical examination and your medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.

Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

A muscle biopsy may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed.

Other tests may include:

  • Serum CPK
  • EMG (electromyography)
  • ECG (electrocardiography)

This disease may also alter the results of the following tests:

Treatment

There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms.

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Becker's muscular dystrophy (1 image) (Doctor-Reviewed information)
Becker's muscular dystrophy is an inherited disorder that involves slowly progressive muscle weakness of the legs and pelvis. Reviewer: A.D.A.M. Editorial Team: Greg Juhn, M.T.P.W., David R. Eltz, Kelli A. Stacy. Previously reviewed by Daniel Kantor, M.D., Director of the Comprehensive MS Center, Neuroscience Institute, University of Florida Health Science Center, Jacksonville, FL. Review provided by VeriMed Healthcare Network (8/7/2006).Date: 06/13/2007

Duchenne muscular dystrophy (3 images) (Doctor-Reviewed information)
Duchenne muscular dystrophy is an inherited disorder, characterized by rapidly-worsening muscle weakness that starts in the legs and pelvis, and later affects the whole body. Reviewer: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.Date: 08/11/2006

Facioscapulohumeral muscular dystrophy (1 image) (Doctor-Reviewed information)
Facioscapulohumeral muscular dystrophy is progressive muscle weakness and loss of muscle tissue. See also: Muscular dystrophy Reviewer: A.D.A.M. Editorial Team: David Zieve, MD, MHA, Greg Juhn, MTPW, David R. Eltz, Kelli A. Stacy, ELS. Previously reviewed by Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network (5/16/2007).Date: 04/07/2008

Muscle biopsy (1 image) (Doctor-Reviewed information)
A muscle biopsy is the removal of a small piece of muscle tissue for examination. Reviewer: Jeffrey Kauffman, MD, Sacramento Knee and Sports Medicine, Sacramento, CA. Review provided by VeriMed Healthcare Network.Date: 09/21/2006

Genetic counseling (1 image) (Doctor-Reviewed information)
Prenatal diagnosis For over 4000 years, people have noticed that certain diseases run in families. However, the "why" was unknown until modern science showed how genetic information is transmitted.Present-day medicine recognizes that genetic disea...Reviewer: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the American Board of Genetic Counseling, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.Date: 05/20/2008

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